Canonical Allele Identifier: CA467387172

Gene: HMCN2

Linked Data

• dbSNP Id: rs1481357409
• gnomAD v3: 9-130433358-C-A
• gnomAD v4: 9-130433358-C-A
• MyVariant Identifiers: chr9:g.133308745C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433358C>A , CM000671.2:g.130433358C>A	GRCh38
NC_000009.11:g.133308745C>A , CM000671.1:g.133308745C>A	GRCh37
NC_000009.10:g.132298566C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14848C>A	ENSP00000485357.2:p.Arg4950=
ENST00000683500.2:c.14905C>A MANE Select	ENSP00000508292.2:p.Arg4969=
ENST00000623487.1:n.3251C>A
ENST00000624552.3:c.14845C>A	ENSP00000485357.1:p.Arg4949=
NM_001291815.1:c.14905C>A	NP_001278744.1:p.Arg4969=
XM_011518465.1:c.14782C>A	XP_011516767.1:p.Arg4928=
XM_011518466.1:c.14773C>A	XP_011516768.1:p.Arg4925=
XM_011518467.1:c.14728C>A	XP_011516769.1:p.Arg4910=
NM_001291815.2:c.14905C>A MANE Select	NP_001278744.1:p.Arg4969=
XM_011518465.2:c.14782C>A	XP_011516767.1:p.Arg4928=
XM_011518466.2:c.14773C>A	XP_011516768.1:p.Arg4925=
XM_011518467.2:c.14728C>A	XP_011516769.1:p.Arg4910=
XM_017014585.1:c.11686C>A	XP_016870074.1:p.Arg3896=
XM_017014586.1:c.7483C>A	XP_016870075.1:p.Arg2495=
XR_001746957.1:n.92+263G>T
XR_001746958.1:n.92+263G>T