Canonical Allele Identifier: CA350399141
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203329576C>A (hg19) chr2:g.202464853C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464853C>A , CM000664.2:g.202464853C>A GRCh38
NC_000002.11:g.203329576C>A , CM000664.1:g.203329576C>A GRCh37
NC_000002.10:g.203037821C>A NCBI36
NG_009363.1:g.93527C>A , LRG_712:g.93527C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.121C>A MANE Select ENSP00000363708.4:p.Gln41Lys
ENST00000638587.1:c.46C>A ENSP00000491062.1:p.Gln16Lys
ENST00000374574.2:c.121C>A ENSP00000363702.2:p.Gln41Lys
ENST00000374580.8:c.121C>A ENSP00000363708.4:p.Gln41Lys
ENST00000479069.1:n.28C>A
NM_001204.6:c.121C>A , LRG_712t1:c.121C>A NP_001195.2:p.Gln41Lys
XM_011511687.1:c.121C>A XP_011509989.1:p.Gln41Lys
XM_011511688.1:c.121C>A XP_011509990.1:p.Gln41Lys
NM_001204.7:c.121C>A MANE Select NP_001195.2:p.Gln41Lys
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