Canonical Allele Identifier: CA2061470

Gene: BMPR2

Linked Data

• dbSNP Id: rs781214206
• ExAC: 2:203420276 T / G
• gnomAD v2: 2-203420276-T-G
• gnomAD v4: 2-202555553-T-G
• MyVariant Identifiers: chr2:g.203420276T>G (hg19) ; chr2:g.202555553T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555553T>G , CM000664.2:g.202555553T>G	GRCh38
NC_000002.11:g.203420276T>G , CM000664.1:g.203420276T>G	GRCh37
NC_000002.10:g.203128521T>G	NCBI36
NG_009363.1:g.184227T>G , LRG_712:g.184227T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1888T>G MANE Select	ENSP00000363708.4:p.Ser630Ala
ENST00000638587.1:c.1819T>G	ENSP00000491062.1:n.1819T>G
ENST00000374574.2:c.1586+2665T>G	ENSP00000363702.2:n.1586+2665T>G
ENST00000374580.8:c.1888T>G	ENSP00000363708.4:p.Ser630Ala
NM_001204.6:c.1888T>G , LRG_712t1:c.1888T>G	NP_001195.2:p.Ser630Ala
XM_011511687.1:c.1888T>G	XP_011509989.1:p.Ser630Ala
XM_011511688.1:c.1586+2665T>G	XP_011509990.1:n.1586+2665T>G
NM_001204.7:c.1888T>G MANE Select	NP_001195.2:p.Ser630Ala