Canonical Allele Identifier: CA375219337

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433400-C-A
• MyVariant Identifiers: chr9:g.133308787C>A (hg19) ; chr9:g.130433400C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433400C>A , CM000671.2:g.130433400C>A	GRCh38
NC_000009.11:g.133308787C>A , CM000671.1:g.133308787C>A	GRCh37
NC_000009.10:g.132298608C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14890C>A	ENSP00000485357.2:p.Leu4964Met
ENST00000683500.2:c.14947C>A MANE Select	ENSP00000508292.2:p.Leu4983Met
ENST00000623487.1:n.3293C>A
ENST00000624552.3:c.14887C>A	ENSP00000485357.1:p.Leu4963Met
NM_001291815.1:c.14947C>A	NP_001278744.1:p.Leu4983Met
XM_011518465.1:c.14824C>A	XP_011516767.1:p.Leu4942Met
XM_011518466.1:c.14815C>A	XP_011516768.1:p.Leu4939Met
XM_011518467.1:c.14770C>A	XP_011516769.1:p.Leu4924Met
NM_001291815.2:c.14947C>A MANE Select	NP_001278744.1:p.Leu4983Met
XM_011518465.2:c.14824C>A	XP_011516767.1:p.Leu4942Met
XM_011518466.2:c.14815C>A	XP_011516768.1:p.Leu4939Met
XM_011518467.2:c.14770C>A	XP_011516769.1:p.Leu4924Met
XM_017014585.1:c.11728C>A	XP_016870074.1:p.Leu3910Met
XM_017014586.1:c.7525C>A	XP_016870075.1:p.Leu2509Met
XR_001746957.1:n.92+221G>T
XR_001746958.1:n.92+221G>T