Canonical Allele Identifier: CA375219188

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433361-C-T
• MyVariant Identifiers: chr9:g.133308748C>T (hg19) ; chr9:g.130433361C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433361C>T , CM000671.2:g.130433361C>T	GRCh38
NC_000009.11:g.133308748C>T , CM000671.1:g.133308748C>T	GRCh37
NC_000009.10:g.132298569C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14851C>T	ENSP00000485357.2:p.Arg4951Cys
ENST00000683500.2:c.14908C>T MANE Select	ENSP00000508292.2:p.Arg4970Cys
ENST00000623487.1:n.3254C>T
ENST00000624552.3:c.14848C>T	ENSP00000485357.1:p.Arg4950Cys
NM_001291815.1:c.14908C>T	NP_001278744.1:p.Arg4970Cys
XM_011518465.1:c.14785C>T	XP_011516767.1:p.Arg4929Cys
XM_011518466.1:c.14776C>T	XP_011516768.1:p.Arg4926Cys
XM_011518467.1:c.14731C>T	XP_011516769.1:p.Arg4911Cys
NM_001291815.2:c.14908C>T MANE Select	NP_001278744.1:p.Arg4970Cys
XM_011518465.2:c.14785C>T	XP_011516767.1:p.Arg4929Cys
XM_011518466.2:c.14776C>T	XP_011516768.1:p.Arg4926Cys
XM_011518467.2:c.14731C>T	XP_011516769.1:p.Arg4911Cys
XM_017014585.1:c.11689C>T	XP_016870074.1:p.Arg3897Cys
XM_017014586.1:c.7486C>T	XP_016870075.1:p.Arg2496Cys
XR_001746957.1:n.92+260G>A
XR_001746958.1:n.92+260G>A