(used for variant description)
(last modified October 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001200.2 in the BMP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023233.1, covering BMP2 transcript NM_001200.2.
(upstream sequence)
g.5005
ccaca c.-781
. . . . . . g.5065
aagggcacttggccccagggctaggagagcgaggggagagcacagccacccgcctcggcg c.-721
. . . . . . g.5125
gcccgggactcggctcgactcgccggagaatgcgcccgaggacgacggggcgccagagcc c.-661
. . . . . . g.5185
gcggtgctttcaactggcgagcgcgaatgggggtgcactggagtaaggcagagtgatgcg c.-601
. . . . . . g.5245
ggggggcaactcgcctggcaccgagatcgccgccgtgcccttccctggacccggcgtcgc c.-541
. . . . . . g.5305
ccaggatggctgccccgagccatgggccgcggcggagctagcgcggagcgcccgaccctc c.-481
. . . . . . g.5365
gacccccgagtcccggagccggccccgcgcggggccacgcgtccctcgggcgctggttcc c.-421
. . . . . . g.5425
taaggaggacgacagcaccagcttctcctttctcccttcccttccctgccccgcactcct c.-361
. . . . . . g.5485
ccccctgctcgctgttgttgtgtgtcagcacttggctggggacttcttgaacttgcaggg c.-301
. . . . . . g.5545
agaataacttgcgcaccccactttgcgccggtgcctttgccccagcggagcctgcttcgc c.-241
. . . . . . g.5605
catctccgagccccaccgcccctccactcctcggccttgcccgacactgagacgctgttc c.-181
. . . . . . g.5665
ccagcgtgaaaagagagactgcgcggccggcacccgggagaaggaggaggcaaagaaaag c.-121
. . . . . . g.5725
gaacggacattcggtccttgcgccaggtcctttgaccagagtttttccatgtggacgctc c.-61
. . . . . . | 02 g.7029
tttcaatggacgtgtccccgcgtgcttcttagacggactgcggtctcctaaag | gtcgacc c.-1
. . . . . . g.7089
ATGGTGGCCGGGACCCGCTGTCTTCTAGCGTTGCTGCTTCCCCAGGTCCTCCTGGGCGGC c.60
M V A G T R C L L A L L L P Q V L L G G p.20
. . . . . . g.7149
GCGGCTGGCCTCGTTCCGGAGCTGGGCCGCAGGAAGTTCGCGGCGGCGTCGTCGGGCCGC c.120
A A G L V P E L G R R K F A A A S S G R p.40
. . . . . . g.7209
CCCTCATCCCAGCCCTCTGACGAGGTCCTGAGCGAGTTCGAGTTGCGGCTGCTCAGCATG c.180
P S S Q P S D E V L S E F E L R L L S M p.60
. . . . . . g.7269
TTCGGCCTGAAACAGAGACCCACCCCCAGCAGGGACGCCGTGGTGCCCCCCTACATGCTA c.240
F G L K Q R P T P S R D A V V P P Y M L p.80
. . . . . . g.7329
GACCTGTATCGCAGGCACTCAGGTCAGCCGGGCTCACCCGCCCCAGACCACCGGTTGGAG c.300
D L Y R R H S G Q P G S P A P D H R L E p.100
. . . . | 03 . . g.15161
AGGGCAGCCAGCCGAGCCAACACTGTGCGCAGCTTCCACCATGAAG | AATCTTTGGAAGAA c.360
R A A S R A N T V R S F H H E E | S L E E p.120
. . . . . . g.15221
CTACCAGAAACGAGTGGGAAAACAACCCGGAGATTCTTCTTTAATTTAAGTTCTATCCCC c.420
L P E T S G K T T R R F F F N L S S I P p.140
. . . . . . g.15281
ACGGAGGAGTTTATCACCTCAGCAGAGCTTCAGGTTTTCCGAGAACAGATGCAAGATGCT c.480
T E E F I T S A E L Q V F R E Q M Q D A p.160
. . . . . . g.15341
TTAGGAAACAATAGCAGTTTCCATCACCGAATTAATATTTATGAAATCATAAAACCTGCA c.540
L G N N S S F H H R I N I Y E I I K P A p.180
. . . . . . g.15401
ACAGCCAACTCGAAATTCCCCGTGACCAGACTTTTGGACACCAGGTTGGTGAATCAGAAT c.600
T A N S K F P V T R L L D T R L V N Q N p.200
. . . . . . g.15461
GCAAGCAGGTGGGAAAGTTTTGATGTCACCCCCGCTGTGATGCGGTGGACTGCACAGGGA c.660
A S R W E S F D V T P A V M R W T A Q G p.220
. . . . . . g.15521
CACGCCAACCATGGATTCGTGGTGGAAGTGGCCCACTTGGAGGAGAAACAAGGTGTCTCC c.720
H A N H G F V V E V A H L E E K Q G V S p.240
. . . . . . g.15581
AAGAGACATGTTAGGATAAGCAGGTCTTTGCACCAAGATGAACACAGCTGGTCACAGATA c.780
K R H V R I S R S L H Q D E H S W S Q I p.260
. . . . . . g.15641
AGGCCATTGCTAGTAACTTTTGGCCATGATGGAAAAGGGCATCCTCTCCACAAAAGAGAA c.840
R P L L V T F G H D G K G H P L H K R E p.280
. . . . . . g.15701
AAACGTCAAGCCAAACACAAACAGCGGAAACGCCTTAAGTCCAGCTGTAAGAGACACCCT c.900
K R Q A K H K Q R K R L K S S C K R H P p.300
. . . . . . g.15761
TTGTACGTGGACTTCAGTGACGTGGGGTGGAATGACTGGATTGTGGCTCCCCCGGGGTAT c.960
L Y V D F S D V G W N D W I V A P P G Y p.320
. . . . . . g.15821
CACGCCTTTTACTGCCACGGAGAATGCCCTTTTCCTCTGGCTGATCATCTGAACTCCACT c.1020
H A F Y C H G E C P F P L A D H L N S T p.340
. . . . . . g.15881
AATCATGCCATTGTTCAGACGTTGGTCAACTCTGTTAACTCTAAGATTCCTAAGGCATGC c.1080
N H A I V Q T L V N S V N S K I P K A C p.360
. . . . . . g.15941
TGTGTCCCGACAGAACTCAGTGCTATCTCGATGCTGTACCTTGACGAGAATGAAAAGGTT c.1140
C V P T E L S A I S M L Y L D E N E K V p.380
. . . . . g.15992
GTATTAAAGAACTATCAGGACATGGTTGTGGAGGGTTGTGGGTGTCGCTAG c.1191
V L K N Y Q D M V V E G C G C R X p.396
. . . . . . g.16052
tacagcaaaattaaatacataaatatatatatatatatatattttagaaaaaagaaaaaa c.*60
. . . . . . g.16112
acaaacaaacaaaaaaaccccaccccagttgacactttaatatttcccaatgaagacttt c.*120
. . . . . . g.16172
atttatggaatggaatggaaaaaaaaacagctattttgaaaatatatttatatctacgaa c.*180
. . . . . . g.16232
aagaagttgggaaaacaaatattttaatcagagaattattccttaaagatttaaaatgta c.*240
. . . . . . g.16292
tttagttgtacattttatatgggttcaaccccagcacatgaagtataatggtcagattta c.*300
. . . . . . g.16352
ttttgtatttatttactattataaccactttttaggaaaaaaatagctaatttgtattta c.*360
. . . . . . g.16412
tatgtaatcaaaagaagtatcgggtttgtacataattttccaaaaattgtagttgttttc c.*420
. . . . . . g.16472
agttgtgtgtatttaagatgaaaagtctacatggaaggttactctggcaaagtgcttagc c.*480
. . . . . . g.16532
acgtttgcttttttgcagtgctactgttgagttcacaagttcaagtccagaaaaaaaaag c.*540
. . . . . . g.16592
tggataatccactctgctgactttcaagattattatattattcaattctcaggaatgttg c.*600
. . . . . . g.16652
cagagtgattgtccaatccatgagaatttacatccttattaggtggaatatttggataag c.*660
. . . . . . g.16712
aaccagacattgctgatctattatagaaactctcctcctgccccttaatttacagaaaga c.*720
. . . . . . g.16772
ataaagcaggatccatagaaataattaggaaaacgatgaacctgcaggaaagtgaatgat c.*780
. . . . . . g.16832
ggtttgttgttcttctttcctaaattagtgatcccttcaaaggggctgatctggccaaag c.*840
. . . . . . g.16892
tattcaataaaacgtaagatttcttcattattgatattgtggtcatatatatttaaaatt c.*900
. . . . . . g.16952
gatatctcgtggccctcatcaagggttggaaatttatttgtgttttacctttacctcatc c.*960
. . . . . . g.17012
tgagagctctttattctccaaagaacccagttttctaactttttgcccaacacgcagcaa c.*1020
. . . . . . g.17072
aattatgcacatcgtgttttctgcccaccctctgttctctgacctatcagcttgcttttc c.*1080
. . . . . . g.17132
tttccaaggttgtgtgtttgaacacatttctccaaatgttaaacctatttcagataataa c.*1140
. . . g.17166
atatcaaatctctggcatttcattctataaagtc c.*1174
(downstream sequence)
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