Canonical Allele Identifier: CA467387192

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433381-C-A
• MyVariant Identifiers: chr9:g.133308768C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433381C>A , CM000671.2:g.130433381C>A	GRCh38
NC_000009.11:g.133308768C>A , CM000671.1:g.133308768C>A	GRCh37
NC_000009.10:g.132298589C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14871C>A	ENSP00000485357.2:p.Gly4957=
ENST00000683500.2:c.14928C>A MANE Select	ENSP00000508292.2:p.Gly4976=
ENST00000623487.1:n.3274C>A
ENST00000624552.3:c.14868C>A	ENSP00000485357.1:p.Gly4956=
NM_001291815.1:c.14928C>A	NP_001278744.1:p.Gly4976=
XM_011518465.1:c.14805C>A	XP_011516767.1:p.Gly4935=
XM_011518466.1:c.14796C>A	XP_011516768.1:p.Gly4932=
XM_011518467.1:c.14751C>A	XP_011516769.1:p.Gly4917=
NM_001291815.2:c.14928C>A MANE Select	NP_001278744.1:p.Gly4976=
XM_011518465.2:c.14805C>A	XP_011516767.1:p.Gly4935=
XM_011518466.2:c.14796C>A	XP_011516768.1:p.Gly4932=
XM_011518467.2:c.14751C>A	XP_011516769.1:p.Gly4917=
XM_017014585.1:c.11709C>A	XP_016870074.1:p.Gly3903=
XM_017014586.1:c.7506C>A	XP_016870075.1:p.Gly2502=
XR_001746957.1:n.92+240G>T
XR_001746958.1:n.92+240G>T