Canonical Allele Identifier: CA1321472534
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1690142111
gnomAD v3: 2-202376450-C-T
gnomAD v4: 2-202376450-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202376450C>T , CM000664.2:g.202376450C>T GRCh38
NC_000002.11:g.203241173C>T , CM000664.1:g.203241173C>T GRCh37
NC_000002.10:g.202949418C>T NCBI36
NG_009363.1:g.5124C>T , LRG_712:g.5124C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.-1025C>T MANE Select ENSP00000363708.4:n.-1025C>T
NM_001204.6:c.-1025C>T , LRG_712t1:c.-1025C>T NP_001195.2:n.-1025C>T
XM_011511687.1:c.-1025C>T XP_011509989.1:n.-1025C>T
XM_011511688.1:c.-1025C>T XP_011509990.1:n.-1025C>T
NM_001204.7:c.-1025C>T MANE Select NP_001195.2:n.-1025C>T
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