Canonical Allele Identifier: CA2061065

Gene: BMPR2

Linked Data

• dbSNP Id: rs373046746
• ExAC: 2:203332192 A / T
• gnomAD v2: 2-203332192-A-T
• MyVariant Identifiers: chr2:g.203332192A>T (hg19) ; chr2:g.202467469A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467469A>T , CM000664.2:g.202467469A>T	GRCh38
NC_000002.11:g.203332192A>T , CM000664.1:g.203332192A>T	GRCh37
NC_000002.10:g.203040437A>T	NCBI36
NG_009363.1:g.96143A>T , LRG_712:g.96143A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.248-50A>T MANE Select	ENSP00000363708.4:n.248-50A>T
ENST00000638587.1:c.179-50A>T	ENSP00000491062.1:n.179-50A>T
ENST00000374574.2:c.248-50A>T	ENSP00000363702.2:n.248-50A>T
ENST00000374580.8:c.248-50A>T	ENSP00000363708.4:n.248-50A>T
ENST00000479069.1:n.155-50A>T
NM_001204.6:c.248-50A>T , LRG_712t1:c.248-50A>T	NP_001195.2:n.248-50A>T
XM_011511687.1:c.248-50A>T	XP_011509989.1:n.248-50A>T
XM_011511688.1:c.248-50A>T	XP_011509990.1:n.248-50A>T
NM_001204.7:c.248-50A>T MANE Select	NP_001195.2:n.248-50A>T