Canonical Allele Identifier: CA350350058

Gene: BMPR2

Linked Data

• MyVariant Identifiers: chr2:g.203421254A>T (hg19) ; chr2:g.202556531A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556531A>T , CM000664.2:g.202556531A>T	GRCh38
NC_000002.11:g.203421254A>T , CM000664.1:g.203421254A>T	GRCh37
NC_000002.10:g.203129499A>T	NCBI36
NG_009363.1:g.185205A>T , LRG_712:g.185205A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2866A>T MANE Select	ENSP00000363708.4:p.Ile956Leu
ENST00000638587.1:c.2797A>T	ENSP00000491062.1:n.2797A>T
ENST00000374574.2:c.1587-3165A>T	ENSP00000363702.2:n.1587-3165A>T
ENST00000374580.8:c.2866A>T	ENSP00000363708.4:p.Ile956Leu
NM_001204.6:c.2866A>T , LRG_712t1:c.2866A>T	NP_001195.2:p.Ile956Leu
XM_011511687.1:c.2866A>T	XP_011509989.1:p.Ser956Cys
XM_011511688.1:c.1587-3165A>T	XP_011509990.1:n.1587-3165A>T
NM_001204.7:c.2866A>T MANE Select	NP_001195.2:p.Ile956Leu