Canonical Allele Identifier: CA2692135589

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433434-T-TGCGCGCCCACCACGACGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433437_130433455dup , CM000671.2:g.130433437_130433455dup	GRCh38
NC_000009.11:g.133308824_133308842dup , CM000671.1:g.133308824_133308842dup	GRCh37
NC_000009.10:g.132298645_132298663dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14927_14945dup	ENSP00000485357.2:p.Leu4984ProfsTer?
ENST00000683500.2:c.14984_15002dup MANE Select	ENSP00000508292.2:p.Leu5003ProfsTer?
ENST00000623487.1:n.3330_3348dup
ENST00000624552.3:c.14924_14942dup	ENSP00000485357.1:p.Leu4983ProfsTer?
NM_001291815.1:c.14984_15002dup	NP_001278744.1:p.Leu5003ProfsTer?
XM_011518465.1:c.14861_14879dup	XP_011516767.1:p.Leu4962ProfsTer?
XM_011518466.1:c.14852_14870dup	XP_011516768.1:p.Leu4959ProfsTer?
XM_011518467.1:c.14807_14825dup	XP_011516769.1:p.Leu4944ProfsTer?
NM_001291815.2:c.14984_15002dup MANE Select	NP_001278744.1:p.Leu5003ProfsTer?
XM_011518465.2:c.14861_14879dup	XP_011516767.1:p.Leu4962ProfsTer?
XM_011518466.2:c.14852_14870dup	XP_011516768.1:p.Leu4959ProfsTer?
XM_011518467.2:c.14807_14825dup	XP_011516769.1:p.Leu4944ProfsTer?
XM_017014585.1:c.11765_11783dup	XP_016870074.1:p.Leu3930ProfsTer?
XM_017014586.1:c.7562_7580dup	XP_016870075.1:p.Leu2529ProfsTer?
XR_001746957.1:n.92+168_92+186dup
XR_001746958.1:n.92+168_92+186dup