Canonical Allele Identifier: CA467387272

Gene: HMCN2

Linked Data

• dbSNP Id: rs1844890920
• gnomAD v4: 9-130433468-C-T
• MyVariant Identifiers: chr9:g.133308855C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433468C>T , CM000671.2:g.130433468C>T	GRCh38
NC_000009.11:g.133308855C>T , CM000671.1:g.133308855C>T	GRCh37
NC_000009.10:g.132298676C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14958C>T	ENSP00000485357.2:p.Ala4986=
ENST00000683500.2:c.15015C>T MANE Select	ENSP00000508292.2:p.Ala5005=
ENST00000623487.1:n.3361C>T
ENST00000624552.3:c.14955C>T	ENSP00000485357.1:p.Ala4985=
NM_001291815.1:c.15015C>T	NP_001278744.1:p.Ala5005=
XM_011518465.1:c.14892C>T	XP_011516767.1:p.Ala4964=
XM_011518466.1:c.14883C>T	XP_011516768.1:p.Ala4961=
XM_011518467.1:c.14838C>T	XP_011516769.1:p.Ala4946=
NM_001291815.2:c.15015C>T MANE Select	NP_001278744.1:p.Ala5005=
XM_011518465.2:c.14892C>T	XP_011516767.1:p.Ala4964=
XM_011518466.2:c.14883C>T	XP_011516768.1:p.Ala4961=
XM_011518467.2:c.14838C>T	XP_011516769.1:p.Ala4946=
XM_017014585.1:c.11796C>T	XP_016870074.1:p.Ala3932=
XM_017014586.1:c.7593C>T	XP_016870075.1:p.Ala2531=
XR_001746957.1:n.92+153G>A
XR_001746958.1:n.92+153G>A