Canonical Allele Identifier: CA430905273

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203421091T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556368T>C , CM000664.2:g.202556368T>C	GRCh38
NC_000002.11:g.203421091T>C , CM000664.1:g.203421091T>C	GRCh37
NC_000002.10:g.203129336T>C	NCBI36
NG_009363.1:g.185042T>C , LRG_712:g.185042T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.2703T>C MANE Select	ENSP00000363708.4:p.Asn901=
ENST00000638587.1:c.2634T>C	ENSP00000491062.1:n.2634T>C
ENST00000374574.2:c.1587-3328T>C	ENSP00000363702.2:n.1587-3328T>C
ENST00000374580.8:c.2703T>C	ENSP00000363708.4:p.Asn901=
NM_001204.6:c.2703T>C , LRG_712t1:c.2703T>C	NP_001195.2:p.Asn901=
XM_011511687.1:c.2703T>C	XP_011509989.1:p.Asn901=
XM_011511688.1:c.1587-3328T>C	XP_011509990.1:n.1587-3328T>C
NM_001204.7:c.2703T>C MANE Select	NP_001195.2:p.Asn901=