Canonical Allele Identifier: CA375219198

Gene: HMCN2

Linked Data

• dbSNP Id: rs1276345631
• gnomAD v4: 9-130433364-T-C
• MyVariant Identifiers: chr9:g.133308751T>C (hg19) ; chr9:g.130433364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433364T>C , CM000671.2:g.130433364T>C	GRCh38
NC_000009.11:g.133308751T>C , CM000671.1:g.133308751T>C	GRCh37
NC_000009.10:g.132298572T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14854T>C	ENSP00000485357.2:p.Cys4952Arg
ENST00000683500.2:c.14911T>C MANE Select	ENSP00000508292.2:p.Cys4971Arg
ENST00000623487.1:n.3257T>C
ENST00000624552.3:c.14851T>C	ENSP00000485357.1:p.Cys4951Arg
NM_001291815.1:c.14911T>C	NP_001278744.1:p.Cys4971Arg
XM_011518465.1:c.14788T>C	XP_011516767.1:p.Cys4930Arg
XM_011518466.1:c.14779T>C	XP_011516768.1:p.Cys4927Arg
XM_011518467.1:c.14734T>C	XP_011516769.1:p.Cys4912Arg
NM_001291815.2:c.14911T>C MANE Select	NP_001278744.1:p.Cys4971Arg
XM_011518465.2:c.14788T>C	XP_011516767.1:p.Cys4930Arg
XM_011518466.2:c.14779T>C	XP_011516768.1:p.Cys4927Arg
XM_011518467.2:c.14734T>C	XP_011516769.1:p.Cys4912Arg
XM_017014585.1:c.11692T>C	XP_016870074.1:p.Cys3898Arg
XM_017014586.1:c.7489T>C	XP_016870075.1:p.Cys2497Arg
XR_001746957.1:n.92+257A>G
XR_001746958.1:n.92+257A>G