(used for variant description)
(last modified November 4, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_174912.3 in the FAAH2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013232.1, covering FAAH2 transcript NM_174912.3.
(upstream sequence)
. . g.5029
gataaacaagctcctgtggaattgtgggt c.-121
. . . . . . g.5089
agacactggacttgtaaacgaaaagcttcataagtccctctttgcttagtacttttctcg c.-61
. . . . . . g.5149
tcctttccccagggtgcacgtaaccctcaagcactaggaccgtgcggaatccaggctgcg c.-1
. . . . . . g.5209
ATGGCACCTTCATTTACCGCCCGCATTCAGTTGTTCCTCTTGCGGGCGCTAGGCTTTCTC c.60
M A P S F T A R I Q L F L L R A L G F L p.20
. . . . . . g.5269
ATAGGCTTAGTAGGCCGAGCAGCTTTAGTCTTAGGGGGTCCAAAGTTTGCCTCAAAGACC c.120
I G L V G R A A L V L G G P K F A S K T p.40
. . . . . . g.5329
CCTCGGCCGGTGACTGAACCATTGCTTCTGCTTTCGGGGATGCAGCTGGCCAAGCTGATC c.180
P R P V T E P L L L L S G M Q L A K L I p.60
. | 02 . . . . . g.10869
CGACAGAGAAAG | GTGAAATGTATAGATGTTGTTCAGGCTTATATCAACAGAATCAAGGAC c.240
R Q R K | V K C I D V V Q A Y I N R I K D p.80
. . . | 03 . . . g.28941
GTGAACCCAATGATCAATGGAATTGTCAAGTACAG | GTTTGAGGAAGCGATGAAGGAGGCT c.300
V N P M I N G I V K Y R | F E E A M K E A p.100
. . . . . . g.29001
CATGCTGTAGATCAAAAGCTTGCAGAGAAGCAGGAAGATGAAGCCACCCTGGAAAATAAA c.360
H A V D Q K L A E K Q E D E A T L E N K p.120
. . . . . | 04 . g.49929
TGGCCCTTCCTTGGGGTTCCTTTGACAGTCAAGGAAGCTTTCCAGCTACAAG | GAATGCCC c.420
W P F L G V P L T V K E A F Q L Q G | M P p.140
. . . . . . g.49989
AATTCTTCTGGACTCATGAACCGTCGTGATGCCATTGCCAAAACAGATGCCACTGTGGTG c.480
N S S G L M N R R D A I A K T D A T V V p.160
. . . . . . g.50049
GCATTACTGAAGGGAGCTGGTGCCATTCCTCTTGGCATAACCAACTGTAGTGAGTTGTGT c.540
A L L K G A G A I P L G I T N C S E L C p.180
. . . . . . g.50109
ATGTGGTATGAATCCAGTAACAAGATCTATGGCCGATCAAACAACCCATATGATTTACAG c.600
M W Y E S S N K I Y G R S N N P Y D L Q p.200
. . | 05 . . . . g.59632
CATATTGTAGGTGGAAGTTCTG | GTGGTGAGGGCTGCACACTGGCAGCTGCCTGCTCAGTT c.660
H I V G G S S G | G E G C T L A A A C S V p.220
. . . . . . g.59692
ATTGGTGTGGGCTCTGATATTGGTGGTAGCATTCGAATGCCTGCTTTCTTCAATGGTATA c.720
I G V G S D I G G S I R M P A F F N G I p.240
. . | 06 . . . . g.97012
TTTGGACACAAGCCTTCTCCAG | GTGTGGTTCCCAACAAAGGTCAGTTTCCCTTGGCTGTG c.780
F G H K P S P G | V V P N K G Q F P L A V p.260
. . . . . . g.97072
GGAGCCCAGGAGTTGTTTCTGTGCACTGGTCCTATGTGCCGTTATGCTGAAGACCTGGCC c.840
G A Q E L F L C T G P M C R Y A E D L A p.280
. . . | 07 . . g.99257
CCCATGTTGAAGGTCATGGCAGGACCTGGGATCAAAAG | GTTAAAACTAGACACAAAGGTA c.900
P M L K V M A G P G I K R | L K L D T K V p.300
. . . . . . g.99317
CATTTAAAAGACTTAAAATTTTACTGGATGGAACATGATGGAGGCTCATTTTTAATGTCC c.960
H L K D L K F Y W M E H D G G S F L M S p.320
. . . | 08 . . . g.150265
AAAGTGGACCAAGATCTCATTATGACTCAGAAAAAG | GTTGTGGTTCACCTTGAAACTATT c.1020
K V D Q D L I M T Q K K | V V V H L E T I p.340
. . . . . . g.150325
CTAGGAGCCTCAGTTCAACATGTTAAACTGAAGAAAATGAAGTACTCTTTTCAGTTGTGG c.1080
L G A S V Q H V K L K K M K Y S F Q L W p.360
. . . | 09 . . . g.165275
ATCGCAATGATGTCAGCAAAGGGACATGATGGGAAG | GAACCTGTGAAATTTGTAGATTTG c.1140
I A M M S A K G H D G K | E P V K F V D L p.380
. . . . . . g.165335
CTTGGTGACCATGGGAAACATGTCAGTCCTCTGTGGGAGTTGATCAAATGGTGCCTGGGT c.1200
L G D H G K H V S P L W E L I K W C L G p.400
. . | 10 . . . g.166879
CTGTCAGTGTACACCATCCCTTCCATTG | GACTGGCTTTGTTGGAAGAAAAGCTCAGATAT c.1260
L S V Y T I P S I G | L A L L E E K L R Y p.420
. . . . . . g.166939
AGCAATGAGAAATACCAAAAGTTTAAGGCAGTGGAAGAAAGCCTGCGTAAAGAGCTGGTG c.1320
S N E K Y Q K F K A V E E S L R K E L V p.440
. . . . . . g.166999
GATATGCTAGGTGATGATGGTGTGTTCTTATATCCCTCACATCCCACAGTGGCACCTAAG c.1380
D M L G D D G V F L Y P S H P T V A P K p.460
. . . . | 11 . . g.207097
CATCATGTCCCTCTAACACGGCCTTTCAACTTTGCTTACACAG | GTGTCTTCAGTGCCCTG c.1440
H H V P L T R P F N F A Y T G | V F S A L p.480
. . . . . . g.207157
GGTTTGCCTGTGACCCAATGCCCACTGGGACTGAATGCCAAAGGACTCCCTTTAGGCATC c.1500
G L P V T Q C P L G L N A K G L P L G I p.500
. . . . . . g.207217
CAGGTTGTGGCTGGACCCTTTAATGATCATCTGACCCTGGCTGTGGCCCAGTACTTGGAG c.1560
Q V V A G P F N D H L T L A V A Q Y L E p.520
. . . g.207256
AAAACTTTTGGGGGCTGGGTCTGTCCAGGAAAGTTTTAG c.1599
K T F G G W V C P G K F X p.532
. . . . . . g.207316
gaggaccttctgcaaggttaatgtgtgtgtgtgtttgtgttcgtgtggtggtgtttctat c.*60
. . . . . . g.207376
taattgggtgaaatcaagcaccagcagacaagcagagaaacaactggggaatttattgac c.*120
. . . . . . g.207436
tcatttagttattctttctacttttatttccttctctaactgttggtcttactaaaatgg c.*180
. . . . . . g.207496
taatatttgcttcttgcttttatgttactggaaaattaggacatgtaaatggataagtgc c.*240
. . g.207520
aataaagtttcctaaatgctggaa c.*264
(downstream sequence)
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