Canonical Allele Identifier: CA1041327995

Gene: BMPR2

Linked Data

• dbSNP Id: rs1688287028
• gnomAD v3: 2-202542121-AAG-A
• gnomAD v4: 2-202542121-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202542123_202542124del , CM000664.2:g.202542123_202542124del	GRCh38
NC_000002.11:g.203406846_203406847del , CM000664.1:g.203406846_203406847del	GRCh37
NC_000002.10:g.203115091_203115092del	NCBI36
NG_009363.1:g.170797_170798del , LRG_712:g.170797_170798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1277-188_1277-187del MANE Select	ENSP00000363708.4:n.1277-188_1277-187del
ENST00000638587.1:c.1208-188_1208-187del	ENSP00000491062.1:n.1208-188_1208-187del
ENST00000374574.2:c.1277-188_1277-187del	ENSP00000363702.2:n.1277-188_1277-187del
ENST00000374580.8:c.1277-188_1277-187del	ENSP00000363708.4:n.1277-188_1277-187del
NM_001204.6:c.1277-188_1277-187del , LRG_712t1:c.1277-188_1277-187del	NP_001195.2:n.1277-188_1277-187del
XM_011511687.1:c.1277-188_1277-187del	XP_011509989.1:n.1277-188_1277-187del
XM_011511688.1:c.1277-188_1277-187del	XP_011509990.1:n.1277-188_1277-187del
NM_001204.7:c.1277-188_1277-187del MANE Select	NP_001195.2:n.1277-188_1277-187del