(used for variant description)
(last modified October 23, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_021804.2 in the ACE2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012575.1, covering ACE2 transcript NM_021804.2.
(upstream sequence)
. . . g.5037
gttgttgtgatcccatggctacagaggatcaggagtt c.-181
. . . . . . g.5097
gacatagatactctttggatttcataccatgtggaggctttcttacttccacgtgacctt c.-121
. . | 02 . . . . g.6098
gactgagttttgaatag | cgcccaacccaagttcaaaggctgataagagagaaaatctcat c.-61
. . . . . . g.6158
gaggaggttttagtctagggaaagtcattcagtggatgtgatcttggctcacaggggacg c.-1
. . . . . . g.6218
ATGTCAAGCTCTTCCTGGCTCCTTCTCAGCCTTGTTGCTGTAACTGCTGCTCAGTCCACC c.60
M S S S S W L L L S L V A V T A A Q S T p.20
. . . . . . g.6278
ATTGAGGAACAGGCCAAGACATTTTTGGACAAGTTTAACCACGAAGCCGAAGACCTGTTC c.120
I E E Q A K T F L D K F N H E A E D L F p.40
. . . . . . g.6338
TATCAAAGTTCACTTGCTTCTTGGAATTATAACACCAATATTACTGAAGAGAATGTCCAA c.180
Y Q S S L A S W N Y N T N I T E E N V Q p.60
| 03 . . . . . . g.12120
AACATG | AATAATGCTGGGGACAAATGGTCTGCCTTTTTAAAGGAACAGTCCACACTTGCC c.240
N M | N N A G D K W S A F L K E Q S T L A p.80
. . . . . . g.12180
CAAATGTATCCACTACAAGAAATTCAGAATCTCACAGTCAAGCTTCAGCTGCAGGCTCTT c.300
Q M Y P L Q E I Q N L T V K L Q L Q A L p.100
. . . . | 04 . . g.14762
CAGCAAAATGGGTCTTCAGTGCTCTCAGAAGACAAGAGCAAACGG | TTGAACACAATTCTA c.360
Q Q N G S S V L S E D K S K R | L N T I L p.120
. . . . . . g.14822
AATACAATGAGCACCATCTACAGTACTGGAAAAGTTTGTAACCCAGATAATCCACAAGAA c.420
N T M S T I Y S T G K V C N P D N P Q E p.140
. | 05 . . . . g.15254
TGCTTATTACTTGAACCAG | GTTTGAATGAAATAATGGCAAACAGTTTAGACTACAATGAG c.480
C L L L E P G | L N E I M A N S L D Y N E p.160
. . . . . . g.15314
AGGCTCTGGGCTTGGGAAAGCTGGAGATCTGAGGTCGGCAAGCAGCTGAGGCCATTATAT c.540
R L W A W E S W R S E V G K Q L R P L Y p.180
. . . . | 06 . . g.17630
GAAGAGTATGTGGTCTTGAAAAATGAGATGGCAAGAGCAAATC | ATTATGAGGACTATGGG c.600
E E Y V V L K N E M A R A N H | Y E D Y G p.200
. . . . . . g.17690
GATTATTGGAGAGGAGACTATGAAGTAAATGGGGTAGATGGCTATGACTACAGCCGCGGC c.660
D Y W R G D Y E V N G V D G Y D Y S R G p.220
. . . | 07 . . . g.19235
CAGTTGATTGAAGATGTGGAACATACCTTTGAAGAG | ATTAAACCATTATATGAACATCTT c.720
Q L I E D V E H T F E E | I K P L Y E H L p.240
. . . . . . g.19295
CATGCCTATGTGAGGGCAAAGTTGATGAATGCCTATCCTTCCTATATCAGTCCAATTGGA c.780
H A Y V R A K L M N A Y P S Y I S P I G p.260
. . | 08 . . . . g.21535
TGCCTCCCTGCTCATTTGCTTG | GTGATATGTGGGGTAGATTTTGGACAAATCTGTACTCT c.840
C L P A H L L G | D M W G R F W T N L Y S p.280
. . . . . . g.21595
TTGACAGTTCCCTTTGGACAGAAACCAAACATAGATGTTACTGATGCAATGGTGGACCAG c.900
L T V P F G Q K P N I D V T D A M V D Q p.300
| 09 . . . . . . g.25739
| GCCTGGGATGCACAGAGAATATTCAAGGAGGCCGAGAAGTTCTTTGTATCTGTTGGTCTT c.960
| A W D A Q R I F K E A E K F F V S V G L p.320
. . . . . . g.25799
CCTAATATGACTCAAGGATTCTGGGAAAATTCCATGCTAACGGACCCAGGAAATGTTCAG c.1020
P N M T Q G F W E N S M L T D P G N V Q p.340
. . . . . | 10 . g.28764
AAAGCAGTCTGCCATCCCACAGCTTGGGACCTGGGGAAGGGCGACTTCAG | GATCCTTATG c.1080
K A V C H P T A W D L G K G D F R | I L M p.360
. . . . . . g.28824
TGCACAAAGGTGACAATGGACGACTTCCTGACAGCTCATCATGAGATGGGGCATATCCAG c.1140
C T K V T M D D F L T A H H E M G H I Q p.380
. . . . . . g.28884
TATGATATGGCATATGCTGCACAACCTTTTCTGCTAAGAAATGGAGCTAATGAAGGATTC c.1200
Y D M A Y A A Q P F L L R N G A N E G F p.400
. . . . . . g.28944
CATGAAGCTGTTGGGGAAATCATGTCACTTTCTGCAGCCACACCTAAGCATTTAAAATCC c.1260
H E A V G E I M S L S A A T P K H L K S p.420
. . . | 11. . . g.31282
ATTGGTCTTCTGTCACCCGATTTTCAAGAAGACAATG | AAACAGAAATAAACTTCCTGCTC c.1320
I G L L S P D F Q E D N E | T E I N F L L p.440
. . . . . . g.31342
AAACAAGCACTCACGATTGTTGGGACTCTGCCATTTACTTACATGTTAGAGAAGTGGAGG c.1380
K Q A L T I V G T L P F T Y M L E K W R p.460
. . . . . . g.31402
TGGATGGTCTTTAAAGGGGAAATTCCCAAAGACCAGTGGATGAAAAAGTGGTGGGAGATG c.1440
W M V F K G E I P K D Q W M K K W W E M p.480
| 12 . . . . . . g.33662
AA | GCGAGAGATAGTTGGGGTGGTGGAACCTGTGCCCCATGATGAAACATACTGTGACCCC c.1500
K | R E I V G V V E P V P H D E T Y C D P p.500
. . . . | 13 . . g.34765
GCATCTCTGTTCCATGTTTCTAATGATTACTCATTCATTCG | ATATTACACAAGGACCCTT c.1560
A S L F H V S N D Y S F I R | Y Y T R T L p.520
. . . . . . g.34825
TACCAATTCCAGTTTCAAGAAGCACTTTGTCAAGCAGCTAAACATGAAGGCCCTCTGCAC c.1620
Y Q F Q F Q E A L C Q A A K H E G P L H p.540
. . . . | 14 . . g.35289
AAATGTGACATCTCAAACTCTACAGAAGCTGGACAGAAACTGTT | CAATATGCTGAGGCTT c.1680
K C D I S N S T E A G Q K L F | N M L R L p.560
. . . . . . g.35349
GGAAAATCAGAACCCTGGACCCTAGCATTGGAAAATGTTGTAGGAGCAAAGAACATGAAT c.1740
G K S E P W T L A L E N V V G A K N M N p.580
. . . . . . g.35409
GTAAGGCCACTGCTCAACTACTTTGAGCCCTTATTTACCTGGCTGAAAGACCAGAACAAG c.1800
V R P L L N Y F E P L F T W L K D Q N K p.600
. . . | 15. . . g.36739
AATTCTTTTGTGGGATGGAGTACCGACTGGAGTCCAT | ATGCAGACCAAAGCATCAAAGTG c.1860
N S F V G W S T D W S P Y | A D Q S I K V p.620
. . . | 16 . . . g.39267
AGGATAAGCCTAAAATCAGCTCTTGGAGATAAAGCA | TATGAATGGAACGACAATGAAATG c.1920
R I S L K S A L G D K A | Y E W N D N E M p.640
. . . . . . g.39327
TACCTGTTCCGATCATCTGTTGCATATGCTATGAGGCAGTACTTTTTAAAAGTAAAAAAT c.1980
Y L F R S S V A Y A M R Q Y F L K V K N p.660
. | 17. . . . . g.40743
CAGATGATTCTTTTTGG | GGAGGAGGATGTGCGAGTGGCTAATTTGAAACCAAGAATCTCC c.2040
Q M I L F G | E E D V R V A N L K P R I S p.680
. . . . . . g.40803
TTTAATTTCTTTGTCACTGCACCTAAAAATGTGTCTGATATCATTCCTAGAACTGAAGTT c.2100
F N F F V T A P K N V S D I I P R T E V p.700
. | 18 . . . . . g.42897
GAAAAGGCCATCAG | GATGTCCCGGAGCCGTATCAATGATGCTTTCCGTCTGAATGACAAC c.2160
E K A I R | M S R S R I N D A F R L N D N p.720
. . . . . . g.42957
AGCCTAGAGTTTCTGGGGATACAGCCAACACTTGGACCTCCTAACCAGCCCCCTGTTTCC c.2220
S L E F L G I Q P T L G P P N Q P P V S p.740
. . . . . . g.43017
ATATGGCTGATTGTTTTTGGAGTTGTGATGGGAGTGATAGTGGTTGGCATTGTCATCCTG c.2280
I W L I V F G V V M G V I V V G I V I L p.760
. . | 19 . . . g.45087
ATCTTCACTGGGATCAGAGATCGGAAGAA | GAAAAATAAAGCAAGAAGTGGAGAAAATCCT c.2340
I F T G I R D R K K | K N K A R S G E N P p.780
. . . . . . g.45147
TATGCCTCCATCGATATTAGCAAAGGAGAAAATAATCCAGGATTCCAAAACACTGATGAT c.2400
Y A S I D I S K G E N N P G F Q N T D D p.800
. g.45165
GTTCAGACCTCCTTTTAG c.2418
V Q T S F X p.805
. . . . . . g.45225
aaaaatctatgtttttcctcttgaggtgattttgttgtatgtaaatgttaatttcatggt c.*60
. . . . . . g.45285
atagaaaatataagatgataaagatatcattaaatgtcaaaactatgactctgttcagaa c.*120
. . . . . . g.45345
aaaaaattgtccaaagacaacatggccaaggagagagcatcttcattgacattgctttca c.*180
. . . . . . g.45405
gtatttatttctgtctctggatttgacttctgttctgtttcttaataaggattttgtatt c.*240
. . . . . . g.45465
agagtatattagggaaagtgtgtatttggtctcacaggctgttcagggataatctaaatg c.*300
. . . . . . g.45525
taaatgtctgttgaatttctgaagttgaaaacaaggatatatcattggagcaagtgttgg c.*360
. . . . . . g.45585
atcttgtatggaatatggatggatcacttgtaaggacagtgcctgggaactggtgtagct c.*420
. . . . . . g.45645
gcaaggattgagaatggcatgcattagctcactttcatttaatccattgtcaaggatgac c.*480
. . . . . . g.45705
atgctttcttcacagtaactcagttcaagtactatggtgatttgcctacagtgatgtttg c.*540
. . . . . . g.45765
gaatcgatcatgctttcttcaaggtgacaggtctaaagagagaagaatccagggaacagg c.*600
. . . . . . g.45825
tagaggacattgctttttcacttccaaggtgcttgatcaacatctccctgacaacacaaa c.*660
. . . . . . g.45885
actagagccaggggcctccgtgaactcccagagcatgcctgatagaaactcatttctact c.*720
. . . . . . g.45945
gttctctaactgtggagtgaatggaaattccaactgtatgttcaccctctgaagtgggta c.*780
. . . . . . g.46005
cccagtctcttaaatcttttgtatttgctcacagtgtttgagcagtgctgagcacaaagc c.*840
. . . g.46037
agacactcaataaatgctagatttacacactc c.*872
(downstream sequence)
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