Canonical Allele Identifier: CA375219153

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433353-G-A
• MyVariant Identifiers: chr9:g.133308740G>A (hg19) ; chr9:g.130433353G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433353G>A , CM000671.2:g.130433353G>A	GRCh38
NC_000009.11:g.133308740G>A , CM000671.1:g.133308740G>A	GRCh37
NC_000009.10:g.132298561G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14843G>A	ENSP00000485357.2:p.Cys4948Tyr
ENST00000683500.2:c.14900G>A MANE Select	ENSP00000508292.2:p.Cys4967Tyr
ENST00000623487.1:n.3246G>A
ENST00000624552.3:c.14840G>A	ENSP00000485357.1:p.Cys4947Tyr
NM_001291815.1:c.14900G>A	NP_001278744.1:p.Cys4967Tyr
XM_011518465.1:c.14777G>A	XP_011516767.1:p.Cys4926Tyr
XM_011518466.1:c.14768G>A	XP_011516768.1:p.Cys4923Tyr
XM_011518467.1:c.14723G>A	XP_011516769.1:p.Cys4908Tyr
NM_001291815.2:c.14900G>A MANE Select	NP_001278744.1:p.Cys4967Tyr
XM_011518465.2:c.14777G>A	XP_011516767.1:p.Cys4926Tyr
XM_011518466.2:c.14768G>A	XP_011516768.1:p.Cys4923Tyr
XM_011518467.2:c.14723G>A	XP_011516769.1:p.Cys4908Tyr
XM_017014585.1:c.11681G>A	XP_016870074.1:p.Cys3894Tyr
XM_017014586.1:c.7478G>A	XP_016870075.1:p.Cys2493Tyr
XR_001746957.1:n.92+268C>T
XR_001746958.1:n.92+268C>T