Canonical Allele Identifier: CA375219540

Gene: HMCN2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14939A>T	ENSP00000485357.2:p.Asp4980Val
ENST00000683500.2:c.14996A>T MANE Select	ENSP00000508292.2:p.Asp4999Val
ENST00000623487.1:n.3342A>T
ENST00000624552.3:c.14936A>T	ENSP00000485357.1:p.Asp4979Val
NM_001291815.1:c.14996A>T	NP_001278744.1:p.Asp4999Val
XM_011518465.1:c.14873A>T	XP_011516767.1:p.Asp4958Val
XM_011518466.1:c.14864A>T	XP_011516768.1:p.Asp4955Val
XM_011518467.1:c.14819A>T	XP_011516769.1:p.Asp4940Val
NM_001291815.2:c.14996A>T MANE Select	NP_001278744.1:p.Asp4999Val
XM_011518465.2:c.14873A>T	XP_011516767.1:p.Asp4958Val
XM_011518466.2:c.14864A>T	XP_011516768.1:p.Asp4955Val
XM_011518467.2:c.14819A>T	XP_011516769.1:p.Asp4940Val
XM_017014585.1:c.11777A>T	XP_016870074.1:p.Asp3926Val
XM_017014586.1:c.7574A>T	XP_016870075.1:p.Asp2525Val
XR_001746957.1:n.92+172T>A
XR_001746958.1:n.92+172T>A