Canonical Allele Identifier: CA1041341862

Gene: BMPR2

Linked Data

• dbSNP Id: rs1312454843
• gnomAD v3: 2-202519961-A-T
• gnomAD v4: 2-202519961-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202519961A>T , CM000664.2:g.202519961A>T	GRCh38
NC_000002.11:g.203384684A>T , CM000664.1:g.203384684A>T	GRCh37
NC_000002.10:g.203092929A>T	NCBI36
NG_009363.1:g.148635A>T , LRG_712:g.148635A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.853-126A>T MANE Select	ENSP00000363708.4:n.853-126A>T
ENST00000638587.1:c.784-126A>T	ENSP00000491062.1:n.784-126A>T
ENST00000374574.2:c.853-126A>T	ENSP00000363702.2:n.853-126A>T
ENST00000374580.8:c.853-126A>T	ENSP00000363708.4:n.853-126A>T
NM_001204.6:c.853-126A>T , LRG_712t1:c.853-126A>T	NP_001195.2:n.853-126A>T
XM_011511687.1:c.853-126A>T	XP_011509989.1:n.853-126A>T
XM_011511688.1:c.853-126A>T	XP_011509990.1:n.853-126A>T
NM_001204.7:c.853-126A>T MANE Select	NP_001195.2:n.853-126A>T