Canonical Allele Identifier: CA350399756

Gene: BMPR2

Linked Data

• COSMIC: COSM4544693
• MyVariant Identifiers: chr2:g.203332355G>A (hg19) ; chr2:g.202467632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467632G>A , CM000664.2:g.202467632G>A	GRCh38
NC_000002.11:g.203332355G>A , CM000664.1:g.203332355G>A	GRCh37
NC_000002.10:g.203040600G>A	NCBI36
NG_009363.1:g.96306G>A , LRG_712:g.96306G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.361G>A MANE Select	ENSP00000363708.4:p.Asp121Asn
ENST00000638587.1:c.292G>A	ENSP00000491062.1:p.Asp98Asn
ENST00000374574.2:c.361G>A	ENSP00000363702.2:p.Asp121Asn
ENST00000374580.8:c.361G>A	ENSP00000363708.4:p.Asp121Asn
ENST00000479069.1:n.268G>A
NM_001204.6:c.361G>A , LRG_712t1:c.361G>A	NP_001195.2:p.Asp121Asn
XM_011511687.1:c.361G>A	XP_011509989.1:p.Asp121Asn
XM_011511688.1:c.361G>A	XP_011509990.1:p.Asp121Asn
NM_001204.7:c.361G>A MANE Select	NP_001195.2:p.Asp121Asn