Canonical Allele Identifier: CA350340460

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203383687A>C (hg19) ; chr2:g.202518964A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518964A>C , CM000664.2:g.202518964A>C	GRCh38
NC_000002.11:g.203383687A>C , CM000664.1:g.203383687A>C	GRCh37
NC_000002.10:g.203091932A>C	NCBI36
NG_009363.1:g.147638A>C , LRG_712:g.147638A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.764A>C MANE Select	ENSP00000363708.4:p.Asp255Ala
ENST00000638587.1:c.695A>C	ENSP00000491062.1:p.Asp232Ala
ENST00000374574.2:c.764A>C	ENSP00000363702.2:p.Asp255Ala
ENST00000374580.8:c.764A>C	ENSP00000363708.4:p.Asp255Ala
NM_001204.6:c.764A>C , LRG_712t1:c.764A>C	NP_001195.2:p.Asp255Ala
XM_011511687.1:c.764A>C	XP_011509989.1:p.Asp255Ala
XM_011511688.1:c.764A>C	XP_011509990.1:p.Asp255Ala
NM_001204.7:c.764A>C MANE Select	NP_001195.2:p.Asp255Ala