Canonical Allele Identifier: CA430893138
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203242255C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377532C>T , CM000664.2:g.202377532C>T GRCh38
NC_000002.11:g.203242255C>T , CM000664.1:g.203242255C>T GRCh37
NC_000002.10:g.202950500C>T NCBI36
NG_009363.1:g.6206C>T , LRG_712:g.6206C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.58C>T MANE Select ENSP00000363708.4:p.Leu20=
ENST00000374574.2:c.58C>T ENSP00000363702.2:p.Leu20=
ENST00000374580.8:c.58C>T ENSP00000363708.4:p.Leu20=
NM_001204.6:c.58C>T , LRG_712t1:c.58C>T NP_001195.2:p.Leu20=
XM_011511687.1:c.58C>T XP_011509989.1:p.Leu20=
XM_011511688.1:c.58C>T XP_011509990.1:p.Leu20=
NM_001204.7:c.58C>T MANE Select NP_001195.2:p.Leu20=