Canonical Allele Identifier: CA375219227

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433374-A-G
• MyVariant Identifiers: chr9:g.133308761A>G (hg19) ; chr9:g.130433374A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433374A>G , CM000671.2:g.130433374A>G	GRCh38
NC_000009.11:g.133308761A>G , CM000671.1:g.133308761A>G	GRCh37
NC_000009.10:g.132298582A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14864A>G	ENSP00000485357.2:p.Asp4955Gly
ENST00000683500.2:c.14921A>G MANE Select	ENSP00000508292.2:p.Asp4974Gly
ENST00000623487.1:n.3267A>G
ENST00000624552.3:c.14861A>G	ENSP00000485357.1:p.Asp4954Gly
NM_001291815.1:c.14921A>G	NP_001278744.1:p.Asp4974Gly
XM_011518465.1:c.14798A>G	XP_011516767.1:p.Asp4933Gly
XM_011518466.1:c.14789A>G	XP_011516768.1:p.Asp4930Gly
XM_011518467.1:c.14744A>G	XP_011516769.1:p.Asp4915Gly
NM_001291815.2:c.14921A>G MANE Select	NP_001278744.1:p.Asp4974Gly
XM_011518465.2:c.14798A>G	XP_011516767.1:p.Asp4933Gly
XM_011518466.2:c.14789A>G	XP_011516768.1:p.Asp4930Gly
XM_011518467.2:c.14744A>G	XP_011516769.1:p.Asp4915Gly
XM_017014585.1:c.11702A>G	XP_016870074.1:p.Asp3901Gly
XM_017014586.1:c.7499A>G	XP_016870075.1:p.Asp2500Gly
XR_001746957.1:n.92+247T>C
XR_001746958.1:n.92+247T>C