Canonical Allele Identifier: CA375219145

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433350-C-A
• MyVariant Identifiers: chr9:g.133308737C>A (hg19) ; chr9:g.130433350C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433350C>A , CM000671.2:g.130433350C>A	GRCh38
NC_000009.11:g.133308737C>A , CM000671.1:g.133308737C>A	GRCh37
NC_000009.10:g.132298558C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14840C>A	ENSP00000485357.2:p.Thr4947Lys
ENST00000683500.2:c.14897C>A MANE Select	ENSP00000508292.2:p.Thr4966Lys
ENST00000623487.1:n.3243C>A
ENST00000624552.3:c.14837C>A	ENSP00000485357.1:p.Thr4946Lys
NM_001291815.1:c.14897C>A	NP_001278744.1:p.Thr4966Lys
XM_011518465.1:c.14774C>A	XP_011516767.1:p.Thr4925Lys
XM_011518466.1:c.14765C>A	XP_011516768.1:p.Thr4922Lys
XM_011518467.1:c.14720C>A	XP_011516769.1:p.Thr4907Lys
NM_001291815.2:c.14897C>A MANE Select	NP_001278744.1:p.Thr4966Lys
XM_011518465.2:c.14774C>A	XP_011516767.1:p.Thr4925Lys
XM_011518466.2:c.14765C>A	XP_011516768.1:p.Thr4922Lys
XM_011518467.2:c.14720C>A	XP_011516769.1:p.Thr4907Lys
XM_017014585.1:c.11678C>A	XP_016870074.1:p.Thr3893Lys
XM_017014586.1:c.7475C>A	XP_016870075.1:p.Thr2492Lys
XR_001746957.1:n.92+271G>T
XR_001746958.1:n.92+271G>T