Canonical Allele Identifier: CA375219157

Gene: HMCN2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14843G>T	ENSP00000485357.2:p.Cys4948Phe
ENST00000683500.2:c.14900G>T MANE Select	ENSP00000508292.2:p.Cys4967Phe
ENST00000623487.1:n.3246G>T
ENST00000624552.3:c.14840G>T	ENSP00000485357.1:p.Cys4947Phe
NM_001291815.1:c.14900G>T	NP_001278744.1:p.Cys4967Phe
XM_011518465.1:c.14777G>T	XP_011516767.1:p.Cys4926Phe
XM_011518466.1:c.14768G>T	XP_011516768.1:p.Cys4923Phe
XM_011518467.1:c.14723G>T	XP_011516769.1:p.Cys4908Phe
NM_001291815.2:c.14900G>T MANE Select	NP_001278744.1:p.Cys4967Phe
XM_011518465.2:c.14777G>T	XP_011516767.1:p.Cys4926Phe
XM_011518466.2:c.14768G>T	XP_011516768.1:p.Cys4923Phe
XM_011518467.2:c.14723G>T	XP_011516769.1:p.Cys4908Phe
XM_017014585.1:c.11681G>T	XP_016870074.1:p.Cys3894Phe
XM_017014586.1:c.7478G>T	XP_016870075.1:p.Cys2493Phe
XR_001746957.1:n.92+268C>A
XR_001746958.1:n.92+268C>A