Canonical Allele Identifier: CA375219538

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433449-A-G
• MyVariant Identifiers: chr9:g.133308836A>G (hg19) ; chr9:g.130433449A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433449A>G , CM000671.2:g.130433449A>G	GRCh38
NC_000009.11:g.133308836A>G , CM000671.1:g.133308836A>G	GRCh37
NC_000009.10:g.132298657A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14939A>G	ENSP00000485357.2:p.Asp4980Gly
ENST00000683500.2:c.14996A>G MANE Select	ENSP00000508292.2:p.Asp4999Gly
ENST00000623487.1:n.3342A>G
ENST00000624552.3:c.14936A>G	ENSP00000485357.1:p.Asp4979Gly
NM_001291815.1:c.14996A>G	NP_001278744.1:p.Asp4999Gly
XM_011518465.1:c.14873A>G	XP_011516767.1:p.Asp4958Gly
XM_011518466.1:c.14864A>G	XP_011516768.1:p.Asp4955Gly
XM_011518467.1:c.14819A>G	XP_011516769.1:p.Asp4940Gly
NM_001291815.2:c.14996A>G MANE Select	NP_001278744.1:p.Asp4999Gly
XM_011518465.2:c.14873A>G	XP_011516767.1:p.Asp4958Gly
XM_011518466.2:c.14864A>G	XP_011516768.1:p.Asp4955Gly
XM_011518467.2:c.14819A>G	XP_011516769.1:p.Asp4940Gly
XM_017014585.1:c.11777A>G	XP_016870074.1:p.Asp3926Gly
XM_017014586.1:c.7574A>G	XP_016870075.1:p.Asp2525Gly
XR_001746957.1:n.92+172T>C
XR_001746958.1:n.92+172T>C