Canonical Allele Identifier: CA375219383

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433412-C-A
• MyVariant Identifiers: chr9:g.133308799C>A (hg19) ; chr9:g.130433412C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433412C>A , CM000671.2:g.130433412C>A	GRCh38
NC_000009.11:g.133308799C>A , CM000671.1:g.133308799C>A	GRCh37
NC_000009.10:g.132298620C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14902C>A	ENSP00000485357.2:p.Leu4968Met
ENST00000683500.2:c.14959C>A MANE Select	ENSP00000508292.2:p.Leu4987Met
ENST00000623487.1:n.3305C>A
ENST00000624552.3:c.14899C>A	ENSP00000485357.1:p.Leu4967Met
NM_001291815.1:c.14959C>A	NP_001278744.1:p.Leu4987Met
XM_011518465.1:c.14836C>A	XP_011516767.1:p.Leu4946Met
XM_011518466.1:c.14827C>A	XP_011516768.1:p.Leu4943Met
XM_011518467.1:c.14782C>A	XP_011516769.1:p.Leu4928Met
NM_001291815.2:c.14959C>A MANE Select	NP_001278744.1:p.Leu4987Met
XM_011518465.2:c.14836C>A	XP_011516767.1:p.Leu4946Met
XM_011518466.2:c.14827C>A	XP_011516768.1:p.Leu4943Met
XM_011518467.2:c.14782C>A	XP_011516769.1:p.Leu4928Met
XM_017014585.1:c.11740C>A	XP_016870074.1:p.Leu3914Met
XM_017014586.1:c.7537C>A	XP_016870075.1:p.Leu2513Met
XR_001746957.1:n.92+209G>T
XR_001746958.1:n.92+209G>T