Canonical Allele Identifier: CA200583129

Gene: HMCN2

Linked Data

• dbSNP Id: rs1053060566
• gnomAD v3: 9-130433427-C-T
• gnomAD v4: 9-130433427-C-T
• MyVariant Identifiers: chr9:g.133308814C>T (hg19) ; chr9:g.130433427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433427C>T , CM000671.2:g.130433427C>T	GRCh38
NC_000009.11:g.133308814C>T , CM000671.1:g.133308814C>T	GRCh37
NC_000009.10:g.132298635C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14917C>T	ENSP00000485357.2:p.Leu4973=
ENST00000683500.2:c.14974C>T MANE Select	ENSP00000508292.2:p.Leu4992=
ENST00000623487.1:n.3320C>T
ENST00000624552.3:c.14914C>T	ENSP00000485357.1:p.Leu4972=
NM_001291815.1:c.14974C>T	NP_001278744.1:p.Leu4992=
XM_011518465.1:c.14851C>T	XP_011516767.1:p.Leu4951=
XM_011518466.1:c.14842C>T	XP_011516768.1:p.Leu4948=
XM_011518467.1:c.14797C>T	XP_011516769.1:p.Leu4933=
NM_001291815.2:c.14974C>T MANE Select	NP_001278744.1:p.Leu4992=
XM_011518465.2:c.14851C>T	XP_011516767.1:p.Leu4951=
XM_011518466.2:c.14842C>T	XP_011516768.1:p.Leu4948=
XM_011518467.2:c.14797C>T	XP_011516769.1:p.Leu4933=
XM_017014585.1:c.11755C>T	XP_016870074.1:p.Leu3919=
XM_017014586.1:c.7552C>T	XP_016870075.1:p.Leu2518=
XR_001746957.1:n.92+194G>A
XR_001746958.1:n.92+194G>A