Canonical Allele Identifier: CA1321545798

Gene: BMPR2

Linked Data

• dbSNP Id: rs1688056019
• gnomAD v3: 2-202532951-TTTAA-T
• gnomAD v4: 2-202532951-TTTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532958_202532961del , CM000664.2:g.202532958_202532961del	GRCh38
NC_000002.11:g.203397681_203397684del , CM000664.1:g.203397681_203397684del	GRCh37
NC_000002.10:g.203105926_203105929del	NCBI36
NG_009363.1:g.161632_161635del , LRG_712:g.161632_161635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+226_1276+229del MANE Select	ENSP00000363708.4:n.1276+226_1276+229del
ENST00000638587.1:c.1207+226_1207+229del	ENSP00000491062.1:n.1207+226_1207+229del
ENST00000374574.2:c.1276+226_1276+229del	ENSP00000363702.2:n.1276+226_1276+229del
ENST00000374580.8:c.1276+226_1276+229del	ENSP00000363708.4:n.1276+226_1276+229del
NM_001204.6:c.1276+226_1276+229del , LRG_712t1:c.1276+226_1276+229del	NP_001195.2:n.1276+226_1276+229del
XM_011511687.1:c.1276+226_1276+229del	XP_011509989.1:n.1276+226_1276+229del
XM_011511688.1:c.1276+226_1276+229del	XP_011509990.1:n.1276+226_1276+229del
NM_001204.7:c.1276+226_1276+229del MANE Select	NP_001195.2:n.1276+226_1276+229del