Canonical Allele Identifier: CA467387248

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433438-C-A
• MyVariant Identifiers: chr9:g.133308825C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433438C>A , CM000671.2:g.130433438C>A	GRCh38
NC_000009.11:g.133308825C>A , CM000671.1:g.133308825C>A	GRCh37
NC_000009.10:g.132298646C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14928C>A	ENSP00000485357.2:p.Arg4976=
ENST00000683500.2:c.14985C>A MANE Select	ENSP00000508292.2:p.Arg4995=
ENST00000623487.1:n.3331C>A
ENST00000624552.3:c.14925C>A	ENSP00000485357.1:p.Arg4975=
NM_001291815.1:c.14985C>A	NP_001278744.1:p.Arg4995=
XM_011518465.1:c.14862C>A	XP_011516767.1:p.Arg4954=
XM_011518466.1:c.14853C>A	XP_011516768.1:p.Arg4951=
XM_011518467.1:c.14808C>A	XP_011516769.1:p.Arg4936=
NM_001291815.2:c.14985C>A MANE Select	NP_001278744.1:p.Arg4995=
XM_011518465.2:c.14862C>A	XP_011516767.1:p.Arg4954=
XM_011518466.2:c.14853C>A	XP_011516768.1:p.Arg4951=
XM_011518467.2:c.14808C>A	XP_011516769.1:p.Arg4936=
XM_017014585.1:c.11766C>A	XP_016870074.1:p.Arg3922=
XM_017014586.1:c.7563C>A	XP_016870075.1:p.Arg2521=
XR_001746957.1:n.92+183G>T
XR_001746958.1:n.92+183G>T