Canonical Allele Identifier: CA375219345

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433403-C-A
• MyVariant Identifiers: chr9:g.133308790C>A (hg19) ; chr9:g.130433403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433403C>A , CM000671.2:g.130433403C>A	GRCh38
NC_000009.11:g.133308790C>A , CM000671.1:g.133308790C>A	GRCh37
NC_000009.10:g.132298611C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14893C>A	ENSP00000485357.2:p.Gln4965Lys
ENST00000683500.2:c.14950C>A MANE Select	ENSP00000508292.2:p.Gln4984Lys
ENST00000623487.1:n.3296C>A
ENST00000624552.3:c.14890C>A	ENSP00000485357.1:p.Gln4964Lys
NM_001291815.1:c.14950C>A	NP_001278744.1:p.Gln4984Lys
XM_011518465.1:c.14827C>A	XP_011516767.1:p.Gln4943Lys
XM_011518466.1:c.14818C>A	XP_011516768.1:p.Gln4940Lys
XM_011518467.1:c.14773C>A	XP_011516769.1:p.Gln4925Lys
NM_001291815.2:c.14950C>A MANE Select	NP_001278744.1:p.Gln4984Lys
XM_011518465.2:c.14827C>A	XP_011516767.1:p.Gln4943Lys
XM_011518466.2:c.14818C>A	XP_011516768.1:p.Gln4940Lys
XM_011518467.2:c.14773C>A	XP_011516769.1:p.Gln4925Lys
XM_017014585.1:c.11731C>A	XP_016870074.1:p.Gln3911Lys
XM_017014586.1:c.7528C>A	XP_016870075.1:p.Gln2510Lys
XR_001746957.1:n.92+218G>T
XR_001746958.1:n.92+218G>T