Canonical Allele Identifier: CA350340640
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812819
ClinVar RCV Id: RCV001003693
dbSNP Id: rs1574488490
MyVariant Identifiers: chr2:g.203383766C>G (hg19) chr2:g.202519043C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519043C>G , CM000664.2:g.202519043C>G GRCh38
NC_000002.11:g.203383766C>G , CM000664.1:g.203383766C>G GRCh37
NC_000002.10:g.203092011C>G NCBI36
NG_009363.1:g.147717C>G , LRG_712:g.147717C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.843C>G MANE Select ENSP00000363708.4:p.Tyr281Ter
ENST00000638587.1:c.774C>G ENSP00000491062.1:p.Tyr258Ter
ENST00000374574.2:c.843C>G ENSP00000363702.2:p.Tyr281Ter
ENST00000374580.8:c.843C>G ENSP00000363708.4:p.Tyr281Ter
NM_001204.6:c.843C>G , LRG_712t1:c.843C>G NP_001195.2:p.Tyr281Ter
XM_011511687.1:c.843C>G XP_011509989.1:p.Tyr281Ter
XM_011511688.1:c.843C>G XP_011509990.1:p.Tyr281Ter
NM_001204.7:c.843C>G MANE Select NP_001195.2:p.Tyr281Ter
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