Canonical Allele Identifier: CA375219384

Gene: HMCN2

Linked Data

• dbSNP Id: rs1844885258
• gnomAD v4: 9-130433412-C-G
• MyVariant Identifiers: chr9:g.133308799C>G (hg19) ; chr9:g.130433412C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14902C>G	ENSP00000485357.2:p.Leu4968Val
ENST00000683500.2:c.14959C>G MANE Select	ENSP00000508292.2:p.Leu4987Val
ENST00000623487.1:n.3305C>G
ENST00000624552.3:c.14899C>G	ENSP00000485357.1:p.Leu4967Val
NM_001291815.1:c.14959C>G	NP_001278744.1:p.Leu4987Val
XM_011518465.1:c.14836C>G	XP_011516767.1:p.Leu4946Val
XM_011518466.1:c.14827C>G	XP_011516768.1:p.Leu4943Val
XM_011518467.1:c.14782C>G	XP_011516769.1:p.Leu4928Val
NM_001291815.2:c.14959C>G MANE Select	NP_001278744.1:p.Leu4987Val
XM_011518465.2:c.14836C>G	XP_011516767.1:p.Leu4946Val
XM_011518466.2:c.14827C>G	XP_011516768.1:p.Leu4943Val
XM_011518467.2:c.14782C>G	XP_011516769.1:p.Leu4928Val
XM_017014585.1:c.11740C>G	XP_016870074.1:p.Leu3914Val
XM_017014586.1:c.7537C>G	XP_016870075.1:p.Leu2513Val
XR_001746957.1:n.92+209G>C
XR_001746958.1:n.92+209G>C