Canonical Allele Identifier: CA350340106

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203383573T>C (hg19) ; chr2:g.202518850T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202518850T>C , CM000664.2:g.202518850T>C	GRCh38
NC_000002.11:g.203383573T>C , CM000664.1:g.203383573T>C	GRCh37
NC_000002.10:g.203091818T>C	NCBI36
NG_009363.1:g.147524T>C , LRG_712:g.147524T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.650T>C MANE Select	ENSP00000363708.4:p.Val217Ala
ENST00000638587.1:c.581T>C	ENSP00000491062.1:p.Val194Ala
ENST00000374574.2:c.650T>C	ENSP00000363702.2:p.Val217Ala
ENST00000374580.8:c.650T>C	ENSP00000363708.4:p.Val217Ala
NM_001204.6:c.650T>C , LRG_712t1:c.650T>C	NP_001195.2:p.Val217Ala
XM_011511687.1:c.650T>C	XP_011509989.1:p.Val217Ala
XM_011511688.1:c.650T>C	XP_011509990.1:p.Val217Ala
NM_001204.7:c.650T>C MANE Select	NP_001195.2:p.Val217Ala