Canonical Allele Identifier: CA375219567

Gene: HMCN2

Linked Data

• dbSNP Id: rs1260902294
• gnomAD v2: 9-133308844-C-T
• gnomAD v4: 9-130433457-C-T
• MyVariant Identifiers: chr9:g.133308844C>T (hg19) ; chr9:g.130433457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433457C>T , CM000671.2:g.130433457C>T	GRCh38
NC_000009.11:g.133308844C>T , CM000671.1:g.133308844C>T	GRCh37
NC_000009.10:g.132298665C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14947C>T	ENSP00000485357.2:p.Arg4983Cys
ENST00000683500.2:c.15004C>T MANE Select	ENSP00000508292.2:p.Arg5002Cys
ENST00000623487.1:n.3350C>T
ENST00000624552.3:c.14944C>T	ENSP00000485357.1:p.Arg4982Cys
NM_001291815.1:c.15004C>T	NP_001278744.1:p.Arg5002Cys
XM_011518465.1:c.14881C>T	XP_011516767.1:p.Arg4961Cys
XM_011518466.1:c.14872C>T	XP_011516768.1:p.Arg4958Cys
XM_011518467.1:c.14827C>T	XP_011516769.1:p.Arg4943Cys
NM_001291815.2:c.15004C>T MANE Select	NP_001278744.1:p.Arg5002Cys
XM_011518465.2:c.14881C>T	XP_011516767.1:p.Arg4961Cys
XM_011518466.2:c.14872C>T	XP_011516768.1:p.Arg4958Cys
XM_011518467.2:c.14827C>T	XP_011516769.1:p.Arg4943Cys
XM_017014585.1:c.11785C>T	XP_016870074.1:p.Arg3929Cys
XM_017014586.1:c.7582C>T	XP_016870075.1:p.Arg2528Cys
XR_001746957.1:n.92+164G>A
XR_001746958.1:n.92+164G>A