Canonical Allele Identifier: CA2061273

Gene: BMPR2

Linked Data

• dbSNP Id: rs768725794
• ExAC: 2:203395555 A / G
• gnomAD v2: 2-203395555-A-G
• gnomAD v4: 2-202530832-A-G
• MyVariant Identifiers: chr2:g.203395555A>G (hg19) ; chr2:g.202530832A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202530832A>G , CM000664.2:g.202530832A>G	GRCh38
NC_000002.11:g.203395555A>G , CM000664.1:g.203395555A>G	GRCh37
NC_000002.10:g.203103800A>G	NCBI36
NG_009363.1:g.159506A>G , LRG_712:g.159506A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.1006A>G MANE Select	ENSP00000363708.4:p.Ser336Gly
ENST00000638587.1:c.937A>G	ENSP00000491062.1:p.Ser313Gly
ENST00000374574.2:c.1006A>G	ENSP00000363702.2:p.Ser336Gly
ENST00000374580.8:c.1006A>G	ENSP00000363708.4:p.Ser336Gly
NM_001204.6:c.1006A>G , LRG_712t1:c.1006A>G	NP_001195.2:p.Ser336Gly
XM_011511687.1:c.1006A>G	XP_011509989.1:p.Ser336Gly
XM_011511688.1:c.1006A>G	XP_011509990.1:p.Ser336Gly
NM_001204.7:c.1006A>G MANE Select	NP_001195.2:p.Ser336Gly