Canonical Allele Identifier: CA1881266412

Gene: HMCN2

Linked Data

• dbSNP Id: rs1844891069
• gnomAD v4: 9-130433468-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433470dup , CM000671.2:g.130433470dup	GRCh38
NC_000009.11:g.133308857dup , CM000671.1:g.133308857dup	GRCh37
NC_000009.10:g.132298678dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14960dup	ENSP00000485357.2:p.Ser4988LeufsTer?
ENST00000683500.2:c.15017dup MANE Select	ENSP00000508292.2:p.Ser5007LeufsTer?
ENST00000623487.1:n.3363dup
ENST00000624552.3:c.14957dup	ENSP00000485357.1:p.Ser4987LeufsTer?
NM_001291815.1:c.15017dup	NP_001278744.1:p.Ser5007LeufsTer?
XM_011518465.1:c.14894dup	XP_011516767.1:p.Ser4966LeufsTer?
XM_011518466.1:c.14885dup	XP_011516768.1:p.Ser4963LeufsTer?
XM_011518467.1:c.14840dup	XP_011516769.1:p.Ser4948LeufsTer?
NM_001291815.2:c.15017dup MANE Select	NP_001278744.1:p.Ser5007LeufsTer?
XM_011518465.2:c.14894dup	XP_011516767.1:p.Ser4966LeufsTer?
XM_011518466.2:c.14885dup	XP_011516768.1:p.Ser4963LeufsTer?
XM_011518467.2:c.14840dup	XP_011516769.1:p.Ser4948LeufsTer?
XM_017014585.1:c.11798dup	XP_016870074.1:p.Ser3934LeufsTer?
XM_017014586.1:c.7595dup	XP_016870075.1:p.Ser2533LeufsTer?
XR_001746957.1:n.92+152dup
XR_001746958.1:n.92+152dup