Canonical Allele Identifier: CA2692135584

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433413-T-TGCTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433420_130433425dup , CM000671.2:g.130433420_130433425dup	GRCh38
NC_000009.11:g.133308807_133308812dup , CM000671.1:g.133308807_133308812dup	GRCh37
NC_000009.10:g.132298628_132298633dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14910_14915dup	ENSP00000485357.2:p.Pro4972_Leu4973insLeuPro
ENST00000683500.2:c.14967_14972dup MANE Select	ENSP00000508292.2:p.Pro4991_Leu4992insLeuPro
ENST00000623487.1:n.3313_3318dup
ENST00000624552.3:c.14907_14912dup	ENSP00000485357.1:p.Pro4971_Leu4972insLeuPro
NM_001291815.1:c.14967_14972dup	NP_001278744.1:p.Pro4991_Leu4992insLeuPro
XM_011518465.1:c.14844_14849dup	XP_011516767.1:p.Pro4950_Leu4951insLeuPro
XM_011518466.1:c.14835_14840dup	XP_011516768.1:p.Pro4947_Leu4948insLeuPro
XM_011518467.1:c.14790_14795dup	XP_011516769.1:p.Pro4932_Leu4933insLeuPro
NM_001291815.2:c.14967_14972dup MANE Select	NP_001278744.1:p.Pro4991_Leu4992insLeuPro
XM_011518465.2:c.14844_14849dup	XP_011516767.1:p.Pro4950_Leu4951insLeuPro
XM_011518466.2:c.14835_14840dup	XP_011516768.1:p.Pro4947_Leu4948insLeuPro
XM_011518467.2:c.14790_14795dup	XP_011516769.1:p.Pro4932_Leu4933insLeuPro
XM_017014585.1:c.11748_11753dup	XP_016870074.1:p.Pro3918_Leu3919insLeuPro
XM_017014586.1:c.7545_7550dup	XP_016870075.1:p.Pro2517_Leu2518insLeuPro
XR_001746957.1:n.92+202_92+207dup
XR_001746958.1:n.92+202_92+207dup