Canonical Allele Identifier: CA375219569

Gene: HMCN2

Linked Data

• dbSNP Id: rs1844890117
• gnomAD v4: 9-130433458-G-A
• MyVariant Identifiers: chr9:g.133308845G>A (hg19) ; chr9:g.130433458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433458G>A , CM000671.2:g.130433458G>A	GRCh38
NC_000009.11:g.133308845G>A , CM000671.1:g.133308845G>A	GRCh37
NC_000009.10:g.132298666G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14948G>A	ENSP00000485357.2:p.Arg4983His
ENST00000683500.2:c.15005G>A MANE Select	ENSP00000508292.2:p.Arg5002His
ENST00000623487.1:n.3351G>A
ENST00000624552.3:c.14945G>A	ENSP00000485357.1:p.Arg4982His
NM_001291815.1:c.15005G>A	NP_001278744.1:p.Arg5002His
XM_011518465.1:c.14882G>A	XP_011516767.1:p.Arg4961His
XM_011518466.1:c.14873G>A	XP_011516768.1:p.Arg4958His
XM_011518467.1:c.14828G>A	XP_011516769.1:p.Arg4943His
NM_001291815.2:c.15005G>A MANE Select	NP_001278744.1:p.Arg5002His
XM_011518465.2:c.14882G>A	XP_011516767.1:p.Arg4961His
XM_011518466.2:c.14873G>A	XP_011516768.1:p.Arg4958His
XM_011518467.2:c.14828G>A	XP_011516769.1:p.Arg4943His
XM_017014585.1:c.11786G>A	XP_016870074.1:p.Arg3929His
XM_017014586.1:c.7583G>A	XP_016870075.1:p.Arg2528His
XR_001746957.1:n.92+163C>T
XR_001746958.1:n.92+163C>T