Canonical Allele Identifier: CA467387191

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433378-C-T
• MyVariant Identifiers: chr9:g.133308765C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433378C>T , CM000671.2:g.130433378C>T	GRCh38
NC_000009.11:g.133308765C>T , CM000671.1:g.133308765C>T	GRCh37
NC_000009.10:g.132298586C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14868C>T	ENSP00000485357.2:p.Cys4956=
ENST00000683500.2:c.14925C>T MANE Select	ENSP00000508292.2:p.Cys4975=
ENST00000623487.1:n.3271C>T
ENST00000624552.3:c.14865C>T	ENSP00000485357.1:p.Cys4955=
NM_001291815.1:c.14925C>T	NP_001278744.1:p.Cys4975=
XM_011518465.1:c.14802C>T	XP_011516767.1:p.Cys4934=
XM_011518466.1:c.14793C>T	XP_011516768.1:p.Cys4931=
XM_011518467.1:c.14748C>T	XP_011516769.1:p.Cys4916=
NM_001291815.2:c.14925C>T MANE Select	NP_001278744.1:p.Cys4975=
XM_011518465.2:c.14802C>T	XP_011516767.1:p.Cys4934=
XM_011518466.2:c.14793C>T	XP_011516768.1:p.Cys4931=
XM_011518467.2:c.14748C>T	XP_011516769.1:p.Cys4916=
XM_017014585.1:c.11706C>T	XP_016870074.1:p.Cys3902=
XM_017014586.1:c.7503C>T	XP_016870075.1:p.Cys2501=
XR_001746957.1:n.92+243G>A
XR_001746958.1:n.92+243G>A