Canonical Allele Identifier: CA375219448

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308815T>G (hg19) ; chr9:g.130433428T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433428T>G , CM000671.2:g.130433428T>G	GRCh38
NC_000009.11:g.133308815T>G , CM000671.1:g.133308815T>G	GRCh37
NC_000009.10:g.132298636T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14918T>G	ENSP00000485357.2:p.Leu4973Arg
ENST00000683500.2:c.14975T>G MANE Select	ENSP00000508292.2:p.Leu4992Arg
ENST00000623487.1:n.3321T>G
ENST00000624552.3:c.14915T>G	ENSP00000485357.1:p.Leu4972Arg
NM_001291815.1:c.14975T>G	NP_001278744.1:p.Leu4992Arg
XM_011518465.1:c.14852T>G	XP_011516767.1:p.Leu4951Arg
XM_011518466.1:c.14843T>G	XP_011516768.1:p.Leu4948Arg
XM_011518467.1:c.14798T>G	XP_011516769.1:p.Leu4933Arg
NM_001291815.2:c.14975T>G MANE Select	NP_001278744.1:p.Leu4992Arg
XM_011518465.2:c.14852T>G	XP_011516767.1:p.Leu4951Arg
XM_011518466.2:c.14843T>G	XP_011516768.1:p.Leu4948Arg
XM_011518467.2:c.14798T>G	XP_011516769.1:p.Leu4933Arg
XM_017014585.1:c.11756T>G	XP_016870074.1:p.Leu3919Arg
XM_017014586.1:c.7553T>G	XP_016870075.1:p.Leu2518Arg
XR_001746957.1:n.92+193A>C
XR_001746958.1:n.92+193A>C