Canonical Allele Identifier: CA467387213

Gene: HMCN2

Linked Data

• dbSNP Id: rs1475750978
• gnomAD v2: 9-133308789-G-A
• gnomAD v4: 9-130433402-G-A
• MyVariant Identifiers: chr9:g.133308789G>A (hg19) ; chr9:g.130433402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433402G>A , CM000671.2:g.130433402G>A	GRCh38
NC_000009.11:g.133308789G>A , CM000671.1:g.133308789G>A	GRCh37
NC_000009.10:g.132298610G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14892G>A	ENSP00000485357.2:p.Leu4964=
ENST00000683500.2:c.14949G>A MANE Select	ENSP00000508292.2:p.Leu4983=
ENST00000623487.1:n.3295G>A
ENST00000624552.3:c.14889G>A	ENSP00000485357.1:p.Leu4963=
NM_001291815.1:c.14949G>A	NP_001278744.1:p.Leu4983=
XM_011518465.1:c.14826G>A	XP_011516767.1:p.Leu4942=
XM_011518466.1:c.14817G>A	XP_011516768.1:p.Leu4939=
XM_011518467.1:c.14772G>A	XP_011516769.1:p.Leu4924=
NM_001291815.2:c.14949G>A MANE Select	NP_001278744.1:p.Leu4983=
XM_011518465.2:c.14826G>A	XP_011516767.1:p.Leu4942=
XM_011518466.2:c.14817G>A	XP_011516768.1:p.Leu4939=
XM_011518467.2:c.14772G>A	XP_011516769.1:p.Leu4924=
XM_017014585.1:c.11730G>A	XP_016870074.1:p.Leu3910=
XM_017014586.1:c.7527G>A	XP_016870075.1:p.Leu2509=
XR_001746957.1:n.92+219C>T
XR_001746958.1:n.92+219C>T