(used for variant description)
(last modified August 8, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001040275.1 in the ESR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011535.1, covering ESR2 transcript NM_001040275.1.
(upstream sequence)
. . . . g.49188
ctcggtctttaaaaggaagaaggggcttatcgttaagtcgcttgtgat c.-421
. . . . . . g.49248
cttttcagtttctccagctgctggctttttggacacccactcccccgccaggaggcagtt c.-361
. . . . . . g.49308
gcaagcgcggaggctgcgagaaataactgcctcttgaaacttgcagggcgaagagcaggc c.-301
. . . . . . g.49368
ggcgagcgctgggccggggagggaccacccgagctgcgacgggctctggggctgcggggc c.-241
. . . . . . g.49428
agggctggcgcccggagcctgagctgcaggaggtgcgctcgctttcctcaacaggtggcg c.-181
. . . . . . g.49488
gcggggcgcgcgccgggagaccccccctaatgcgggaaaagcacgtgtccgcattttaga c.-121
. . . | 02 . . g.60505
gaaggcaaggccggtgtgtttatctgcaag | ccattatacttgcccacgaatctttgagaa c.-61
. . . . . . g.60565
cattataatgacctttgtgcctcttcttgcaaggtgttttctcagctgttatctcaagac c.-1
. . . . . . g.60625
ATGGATATAAAAAACTCACCATCTAGCCTTAATTCTCCTTCCTCCTACAACTGCAGTCAA c.60
M D I K N S P S S L N S P S S Y N C S Q p.20
. . . . . . g.60685
TCCATCTTACCCCTGGAGCACGGCTCCATATACATACCTTCCTCCTATGTAGACAGCCAC c.120
S I L P L E H G S I Y I P S S Y V D S H p.40
. . . . . . g.60745
CATGAATATCCAGCCATGACATTCTATAGCCCTGCTGTGATGAATTACAGCATTCCCAGC c.180
H E Y P A M T F Y S P A V M N Y S I P S p.60
. . . . . . g.60805
AATGTCACTAACTTGGAAGGTGGGCCTGGTCGGCAGACCACAAGCCCAAATGTGTTGTGG c.240
N V T N L E G G P G R Q T T S P N V L W p.80
. . . . . . g.60865
CCAACACCTGGGCACCTTTCTCCTTTAGTGGTCCATCGCCAGTTATCACATCTGTATGCG c.300
P T P G H L S P L V V H R Q L S H L Y A p.100
. . . . . . g.60925
GAACCTCAAAAGAGTCCCTGGTGTGAAGCAAGATCGCTAGAACACACCTTACCTGTAAAC c.360
E P Q K S P W C E A R S L E H T L P V N p.120
| 03 . . . . . . g.63455
AG | AGAGACACTGAAAAGGAAGGTTAGTGGGAACCGTTGCGCCAGCCCTGTTACTGGTCCA c.420
R | E T L K R K V S G N R C A S P V T G P p.140
. . . . . . g.63515
GGTTCAAAGAGGGATGCTCACTTCTGCGCTGTCTGCAGCGATTACGCATCGGGATATCAC c.480
G S K R D A H F C A V C S D Y A S G Y H p.160
. . . . . | 04 . g.74644
TATGGAGTCTGGTCGTGTGAAGGATGTAAGGCCTTTTTTAAAAGAAGCATTCAAG | GACAT c.540
Y G V W S C E G C K A F F K R S I Q G | H p.180
. . . . . . g.74704
AATGATTATATTTGTCCAGCTACAAATCAGTGTACAATCGATAAAAACCGGCGCAAGAGC c.600
N D Y I C P A T N Q C T I D K N R R K S p.200
. . . . . | 05 . g.82810
TGCCAGGCCTGCCGACTTCGGAAGTGTTACGAAGTGGGAATGGTGAAGTGTG | GCTCCCGG c.660
C Q A C R L R K C Y E V G M V K C G | S R p.220
. . . . . . g.82870
AGAGAGAGATGTGGGTACCGCCTTGTGCGGAGACAGAGAAGTGCCGACGAGCAGCTGCAC c.720
R E R C G Y R L V R R Q R S A D E Q L H p.240
. . . . . . g.82930
TGTGCCGGCAAGGCCAAGAGAAGTGGCGGCCACGCGCCCCGAGTGCGGGAGCTGCTGCTG c.780
C A G K A K R S G G H A P R V R E L L L p.260
. . . . . . g.82990
GACGCCCTGAGCCCCGAGCAGCTAGTGCTCACCCTCCTGGAGGCTGAGCCGCCCCATGTG c.840
D A L S P E Q L V L T L L E A E P P H V p.280
. . . . . . g.83050
CTGATCAGCCGCCCCAGTGCGCCCTTCACCGAGGCCTCCATGATGATGTCCCTGACCAAG c.900
L I S R P S A P F T E A S M M M S L T K p.300
. . . . . | 06 . g.86194
TTGGCCGACAAGGAGTTGGTACACATGATCAGCTGGGCCAAGAAGATTCCCG | GCTTTGTG c.960
L A D K E L V H M I S W A K K I P G | F V p.320
. . . . . . g.86254
GAGCTCAGCCTGTTCGACCAAGTGCGGCTCTTGGAGAGCTGTTGGATGGAGGTGTTAATG c.1020
E L S L F D Q V R L L E S C W M E V L M p.340
. . . . . . g.86314
ATGGGGCTGATGTGGCGCTCAATTGACCACCCCGGCAAGCTCATCTTTGCTCCAGATCTT c.1080
M G L M W R S I D H P G K L I F A P D L p.360
. | 07 . . . . . g.93920
GTTCTGGACAG | GGATGAGGGGAAATGCGTAGAAGGAATTCTGGAAATCTTTGACATGCTC c.1140
V L D R | D E G K C V E G I L E I F D M L p.380
. . . . . . g.93980
CTGGCAACTACTTCAAGGTTTCGAGAGTTAAAACTCCAACACAAAGAATATCTCTGTGTC c.1200
L A T T S R F R E L K L Q H K E Y L C V p.400
. . | 08 . . . . g.108435
AAGGCCATGATCCTGCTCAATTCCA | GTATGTACCCTCTGGTCACAGCGACCCAGGATGCT c.1260
K A M I L L N S S | M Y P L V T A T Q D A p.420
. . . . . . g.108495
GACAGCAGCCGGAAGCTGGCTCACTTGCTGAACGCCGTGACCGATGCTTTGGTTTGGGTG c.1320
D S S R K L A H L L N A V T D A L V W V p.440
. . . . . . g.108555
ATTGCCAAGAGCGGCATCTCCTCCCAGCAGCAATCCATGCGCCTGGCTAACCTCCTGATG c.1380
I A K S G I S S Q Q Q S M R L A N L L M p.460
. . | 09 . . . . g.115970
CTCCTGTCCCACGTCAGGCATGCGAG | GGCAGAAAAGGCCTCTCAAACACTCACCTCATTT c.1440
L L S H V R H A R | A E K A S Q T L T S F p.480
. . . . g.116018
GGAATGAAGATGGAGACTCTTTTGCCTGAAGCAACGATGGAGCAGTGA c.1488
G M K M E T L L P E A T M E Q X p.495
. . . . . . g.116078
ccctctaatcaactcggtggcctaaagaaaaatcttgggtaacattttcacttcagtttc c.*60
. . . . . . g.116138
cctctgggatcattgtaatccatgaaaaaaataattttaaagaaagagttaaaatacttt c.*120
. . . . . . g.116198
gaagttagttatgtggttaaaaaccaccttcctttctattatcaatccaacaatttgata c.*180
. . . . . . g.116258
actgtaaacgctaaagtgaagacggattctcttcagatggtctccttaactgcccagggc c.*240
. . . . . . g.116318
ttgcagatgtctcacccatgaggggcaccaatgtagaaagctgaggcttcatctactgat c.*300
. . . . . . g.116378
gagcttcactggtttcccctgaggtttgtgctttggcagagaaggggaggaggggactgg c.*360
. . . . . . g.116438
gattgtgtggtcagctgtgcctgccaacagatgcaggttaggaactgtgttcagtatctt c.*420
. . . . . . g.116498
ccaataagaaaggggaaatgccgatgcctatcctctttgtttaggtagaaagtaaaatgc c.*480
. . g.116518
tactggacttaaatgggcaa c.*500
(downstream sequence)
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