Canonical Allele Identifier: CA375219444

Gene: HMCN2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14918T>A	ENSP00000485357.2:p.Leu4973Gln
ENST00000683500.2:c.14975T>A MANE Select	ENSP00000508292.2:p.Leu4992Gln
ENST00000623487.1:n.3321T>A
ENST00000624552.3:c.14915T>A	ENSP00000485357.1:p.Leu4972Gln
NM_001291815.1:c.14975T>A	NP_001278744.1:p.Leu4992Gln
XM_011518465.1:c.14852T>A	XP_011516767.1:p.Leu4951Gln
XM_011518466.1:c.14843T>A	XP_011516768.1:p.Leu4948Gln
XM_011518467.1:c.14798T>A	XP_011516769.1:p.Leu4933Gln
NM_001291815.2:c.14975T>A MANE Select	NP_001278744.1:p.Leu4992Gln
XM_011518465.2:c.14852T>A	XP_011516767.1:p.Leu4951Gln
XM_011518466.2:c.14843T>A	XP_011516768.1:p.Leu4948Gln
XM_011518467.2:c.14798T>A	XP_011516769.1:p.Leu4933Gln
XM_017014585.1:c.11756T>A	XP_016870074.1:p.Leu3919Gln
XM_017014586.1:c.7553T>A	XP_016870075.1:p.Leu2518Gln
XR_001746957.1:n.92+193A>T
XR_001746958.1:n.92+193A>T