Canonical Allele Identifier: CA350399352

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203329641A>T (hg19) ; chr2:g.202464918A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464918A>T , CM000664.2:g.202464918A>T	GRCh38
NC_000002.11:g.203329641A>T , CM000664.1:g.203329641A>T	GRCh37
NC_000002.10:g.203037886A>T	NCBI36
NG_009363.1:g.93592A>T , LRG_712:g.93592A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.186A>T MANE Select	ENSP00000363708.4:p.Lys62Asn
ENST00000638587.1:c.111A>T	ENSP00000491062.1:p.Lys37Asn
ENST00000374574.2:c.186A>T	ENSP00000363702.2:p.Lys62Asn
ENST00000374580.8:c.186A>T	ENSP00000363708.4:p.Lys62Asn
ENST00000479069.1:n.93A>T
NM_001204.6:c.186A>T , LRG_712t1:c.186A>T	NP_001195.2:p.Lys62Asn
XM_011511687.1:c.186A>T	XP_011509989.1:p.Lys62Asn
XM_011511688.1:c.186A>T	XP_011509990.1:p.Lys62Asn
NM_001204.7:c.186A>T MANE Select	NP_001195.2:p.Lys62Asn