Canonical Allele Identifier: CA375219637

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433477-G-T
• MyVariant Identifiers: chr9:g.133308864G>T (hg19) ; chr9:g.130433477G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433477G>T , CM000671.2:g.130433477G>T	GRCh38
NC_000009.11:g.133308864G>T , CM000671.1:g.133308864G>T	GRCh37
NC_000009.10:g.132298685G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14967G>T	ENSP00000485357.2:p.Glu4989Asp
ENST00000683500.2:c.15024G>T MANE Select	ENSP00000508292.2:p.Glu5008Asp
ENST00000623487.1:n.3370G>T
ENST00000624552.3:c.14964G>T	ENSP00000485357.1:p.Glu4988Asp
NM_001291815.1:c.15024G>T	NP_001278744.1:p.Glu5008Asp
XM_011518465.1:c.14901G>T	XP_011516767.1:p.Glu4967Asp
XM_011518466.1:c.14892G>T	XP_011516768.1:p.Glu4964Asp
XM_011518467.1:c.14847G>T	XP_011516769.1:p.Glu4949Asp
NM_001291815.2:c.15024G>T MANE Select	NP_001278744.1:p.Glu5008Asp
XM_011518465.2:c.14901G>T	XP_011516767.1:p.Glu4967Asp
XM_011518466.2:c.14892G>T	XP_011516768.1:p.Glu4964Asp
XM_011518467.2:c.14847G>T	XP_011516769.1:p.Glu4949Asp
XM_017014585.1:c.11805G>T	XP_016870074.1:p.Glu3935Asp
XM_017014586.1:c.7602G>T	XP_016870075.1:p.Glu2534Asp
XR_001746957.1:n.92+144C>A
XR_001746958.1:n.92+144C>A