Canonical Allele Identifier: CA1321540310

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520316_202520320delinsTAGTC , CM000664.2:g.202520316_202520320delinsTAGTC	GRCh38
NC_000002.11:g.203385039_203385043delinsTAGTC , CM000664.1:g.203385039_203385043delinsTAGTC	GRCh37
NC_000002.10:g.203093284_203093288delinsTAGTC	NCBI36
NG_009363.1:g.148990_148994delinsTAGTC , LRG_712:g.148990_148994delinsTAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.967+115_967+119delinsTAGTC MANE Select	ENSP00000363708.4:n.967+115_967+119delinsTAGTC
ENST00000638587.1:c.898+115_898+119delinsTAGTC	ENSP00000491062.1:n.898+115_898+119delinsTAGTC
ENST00000374574.2:c.967+115_967+119delinsTAGTC	ENSP00000363702.2:n.967+115_967+119delinsTAGTC
ENST00000374580.8:c.967+115_967+119delinsTAGTC	ENSP00000363708.4:n.967+115_967+119delinsTAGTC
NM_001204.6:c.967+115_967+119delinsTAGTC , LRG_712t1:c.967+115_967+119delinsTAGTC	NP_001195.2:n.967+115_967+119delinsTAGTC
XM_011511687.1:c.967+115_967+119delinsTAGTC	XP_011509989.1:n.967+115_967+119delinsTAGTC
XM_011511688.1:c.967+115_967+119delinsTAGTC	XP_011509990.1:n.967+115_967+119delinsTAGTC
NM_001204.7:c.967+115_967+119delinsTAGTC MANE Select	NP_001195.2:n.967+115_967+119delinsTAGTC