Canonical Allele Identifier: CA467387221

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433411-G-C
• MyVariant Identifiers: chr9:g.133308798G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433411G>C , CM000671.2:g.130433411G>C	GRCh38
NC_000009.11:g.133308798G>C , CM000671.1:g.133308798G>C	GRCh37
NC_000009.10:g.132298619G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14901G>C	ENSP00000485357.2:p.Arg4967=
ENST00000683500.2:c.14958G>C MANE Select	ENSP00000508292.2:p.Arg4986=
ENST00000623487.1:n.3304G>C
ENST00000624552.3:c.14898G>C	ENSP00000485357.1:p.Arg4966=
NM_001291815.1:c.14958G>C	NP_001278744.1:p.Arg4986=
XM_011518465.1:c.14835G>C	XP_011516767.1:p.Arg4945=
XM_011518466.1:c.14826G>C	XP_011516768.1:p.Arg4942=
XM_011518467.1:c.14781G>C	XP_011516769.1:p.Arg4927=
NM_001291815.2:c.14958G>C MANE Select	NP_001278744.1:p.Arg4986=
XM_011518465.2:c.14835G>C	XP_011516767.1:p.Arg4945=
XM_011518466.2:c.14826G>C	XP_011516768.1:p.Arg4942=
XM_011518467.2:c.14781G>C	XP_011516769.1:p.Arg4927=
XM_017014585.1:c.11739G>C	XP_016870074.1:p.Arg3913=
XM_017014586.1:c.7536G>C	XP_016870075.1:p.Arg2512=
XR_001746957.1:n.92+210C>G
XR_001746958.1:n.92+210C>G