Canonical Allele Identifier: CA2786081121

Gene: HMCN2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433393dup , CM000671.2:g.130433393dup	GRCh38
NC_000009.11:g.133308780dup , CM000671.1:g.133308780dup	GRCh37
NC_000009.10:g.132298601dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624552.4:c.14883dup	ENSP00000485357.2:p.Ser4962LeufsTer?
ENST00000683500.2:c.14940dup MANE Select	ENSP00000508292.2:p.Ser4981LeufsTer?
ENST00000623487.1:n.3286dup
ENST00000624552.3:c.14880dup	ENSP00000485357.1:p.Ser4961LeufsTer?
NM_001291815.1:c.14940dup	NP_001278744.1:p.Ser4981LeufsTer?
XM_011518465.1:c.14817dup	XP_011516767.1:p.Ser4940LeufsTer?
XM_011518466.1:c.14808dup	XP_011516768.1:p.Ser4937LeufsTer?
XM_011518467.1:c.14763dup	XP_011516769.1:p.Ser4922LeufsTer?
NM_001291815.2:c.14940dup MANE Select	NP_001278744.1:p.Ser4981LeufsTer?
XM_011518465.2:c.14817dup	XP_011516767.1:p.Ser4940LeufsTer?
XM_011518466.2:c.14808dup	XP_011516768.1:p.Ser4937LeufsTer?
XM_011518467.2:c.14763dup	XP_011516769.1:p.Ser4922LeufsTer?
XM_017014585.1:c.11721dup	XP_016870074.1:p.Ser3908LeufsTer?
XM_017014586.1:c.7518dup	XP_016870075.1:p.Ser2507LeufsTer?
XR_001746957.1:n.92+231dup
XR_001746958.1:n.92+231dup