Canonical Allele Identifier: CA375219442

Gene: HMCN2

Linked Data

• MyVariant Identifiers: chr9:g.133308814C>G (hg19) ; chr9:g.130433427C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14917C>G	ENSP00000485357.2:p.Leu4973Val
ENST00000683500.2:c.14974C>G MANE Select	ENSP00000508292.2:p.Leu4992Val
ENST00000623487.1:n.3320C>G
ENST00000624552.3:c.14914C>G	ENSP00000485357.1:p.Leu4972Val
NM_001291815.1:c.14974C>G	NP_001278744.1:p.Leu4992Val
XM_011518465.1:c.14851C>G	XP_011516767.1:p.Leu4951Val
XM_011518466.1:c.14842C>G	XP_011516768.1:p.Leu4948Val
XM_011518467.1:c.14797C>G	XP_011516769.1:p.Leu4933Val
NM_001291815.2:c.14974C>G MANE Select	NP_001278744.1:p.Leu4992Val
XM_011518465.2:c.14851C>G	XP_011516767.1:p.Leu4951Val
XM_011518466.2:c.14842C>G	XP_011516768.1:p.Leu4948Val
XM_011518467.2:c.14797C>G	XP_011516769.1:p.Leu4933Val
XM_017014585.1:c.11755C>G	XP_016870074.1:p.Leu3919Val
XM_017014586.1:c.7552C>G	XP_016870075.1:p.Leu2518Val
XR_001746957.1:n.92+194G>C
XR_001746958.1:n.92+194G>C