Canonical Allele Identifier: CA467387240

Gene: HMCN2

Linked Data

• dbSNP Id: rs1844886874
• gnomAD v4: 9-130433429-G-A
• MyVariant Identifiers: chr9:g.133308816G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433429G>A , CM000671.2:g.130433429G>A	GRCh38
NC_000009.11:g.133308816G>A , CM000671.1:g.133308816G>A	GRCh37
NC_000009.10:g.132298637G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14919G>A	ENSP00000485357.2:p.Leu4973=
ENST00000683500.2:c.14976G>A MANE Select	ENSP00000508292.2:p.Leu4992=
ENST00000623487.1:n.3322G>A
ENST00000624552.3:c.14916G>A	ENSP00000485357.1:p.Leu4972=
NM_001291815.1:c.14976G>A	NP_001278744.1:p.Leu4992=
XM_011518465.1:c.14853G>A	XP_011516767.1:p.Leu4951=
XM_011518466.1:c.14844G>A	XP_011516768.1:p.Leu4948=
XM_011518467.1:c.14799G>A	XP_011516769.1:p.Leu4933=
NM_001291815.2:c.14976G>A MANE Select	NP_001278744.1:p.Leu4992=
XM_011518465.2:c.14853G>A	XP_011516767.1:p.Leu4951=
XM_011518466.2:c.14844G>A	XP_011516768.1:p.Leu4948=
XM_011518467.2:c.14799G>A	XP_011516769.1:p.Leu4933=
XM_017014585.1:c.11757G>A	XP_016870074.1:p.Leu3919=
XM_017014586.1:c.7554G>A	XP_016870075.1:p.Leu2518=
XR_001746957.1:n.92+192C>T
XR_001746958.1:n.92+192C>T