Canonical Allele Identifier: CA64044552

Gene: BMPR2

Linked Data

• dbSNP Id: rs969638619
• gnomAD v4: 2-202556644-T-C
• MyVariant Identifiers: chr2:g.203421367T>C (hg19) ; chr2:g.202556644T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556644T>C , CM000664.2:g.202556644T>C	GRCh38
NC_000002.11:g.203421367T>C , CM000664.1:g.203421367T>C	GRCh37
NC_000002.10:g.203129612T>C	NCBI36
NG_009363.1:g.185318T>C , LRG_712:g.185318T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2866+113T>C MANE Select	ENSP00000363708.4:n.2866+113T>C
ENST00000638587.1:c.2797+113T>C	ENSP00000491062.1:n.2797+113T>C
ENST00000374574.2:c.1587-3052T>C	ENSP00000363702.2:n.1587-3052T>C
ENST00000374580.8:c.2866+113T>C	ENSP00000363708.4:n.2866+113T>C
NM_001204.6:c.2866+113T>C , LRG_712t1:c.2866+113T>C	NP_001195.2:n.2866+113T>C
XM_011511687.1:c.2866+113T>C	XP_011509989.1:n.2866+113T>C
XM_011511688.1:c.1587-3052T>C	XP_011509990.1:n.1587-3052T>C
NM_001204.7:c.2866+113T>C MANE Select	NP_001195.2:n.2866+113T>C