Canonical Allele Identifier: CA375219454

Gene: HMCN2

Linked Data

• COSMIC: COSM5505281
• MyVariant Identifiers: chr9:g.133308817G>T (hg19) ; chr9:g.130433430G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433430G>T , CM000671.2:g.130433430G>T	GRCh38
NC_000009.11:g.133308817G>T , CM000671.1:g.133308817G>T	GRCh37
NC_000009.10:g.132298638G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14920G>T	ENSP00000485357.2:p.Gly4974Cys
ENST00000683500.2:c.14977G>T MANE Select	ENSP00000508292.2:p.Gly4993Cys
ENST00000623487.1:n.3323G>T
ENST00000624552.3:c.14917G>T	ENSP00000485357.1:p.Gly4973Cys
NM_001291815.1:c.14977G>T	NP_001278744.1:p.Gly4993Cys
XM_011518465.1:c.14854G>T	XP_011516767.1:p.Gly4952Cys
XM_011518466.1:c.14845G>T	XP_011516768.1:p.Gly4949Cys
XM_011518467.1:c.14800G>T	XP_011516769.1:p.Gly4934Cys
NM_001291815.2:c.14977G>T MANE Select	NP_001278744.1:p.Gly4993Cys
XM_011518465.2:c.14854G>T	XP_011516767.1:p.Gly4952Cys
XM_011518466.2:c.14845G>T	XP_011516768.1:p.Gly4949Cys
XM_011518467.2:c.14800G>T	XP_011516769.1:p.Gly4934Cys
XM_017014585.1:c.11758G>T	XP_016870074.1:p.Gly3920Cys
XM_017014586.1:c.7555G>T	XP_016870075.1:p.Gly2519Cys
XR_001746957.1:n.92+191C>A
XR_001746958.1:n.92+191C>A