Canonical Allele Identifier: CA2579483196

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433416-T-TGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433419_130433421dup , CM000671.2:g.130433419_130433421dup	GRCh38
NC_000009.11:g.133308806_133308808dup , CM000671.1:g.133308806_133308808dup	GRCh37
NC_000009.10:g.132298627_132298629dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14909_14911dup	ENSP00000485357.2:p.Pro4970_Leu4971insPro
ENST00000683500.2:c.14966_14968dup MANE Select	ENSP00000508292.2:p.Pro4989_Leu4990insPro
ENST00000623487.1:n.3312_3314dup
ENST00000624552.3:c.14906_14908dup	ENSP00000485357.1:p.Pro4969_Leu4970insPro
NM_001291815.1:c.14966_14968dup	NP_001278744.1:p.Pro4989_Leu4990insPro
XM_011518465.1:c.14843_14845dup	XP_011516767.1:p.Pro4948_Leu4949insPro
XM_011518466.1:c.14834_14836dup	XP_011516768.1:p.Pro4945_Leu4946insPro
XM_011518467.1:c.14789_14791dup	XP_011516769.1:p.Pro4930_Leu4931insPro
NM_001291815.2:c.14966_14968dup MANE Select	NP_001278744.1:p.Pro4989_Leu4990insPro
XM_011518465.2:c.14843_14845dup	XP_011516767.1:p.Pro4948_Leu4949insPro
XM_011518466.2:c.14834_14836dup	XP_011516768.1:p.Pro4945_Leu4946insPro
XM_011518467.2:c.14789_14791dup	XP_011516769.1:p.Pro4930_Leu4931insPro
XM_017014585.1:c.11747_11749dup	XP_016870074.1:p.Pro3916_Leu3917insPro
XM_017014586.1:c.7544_7546dup	XP_016870075.1:p.Pro2515_Leu2516insPro
XR_001746957.1:n.92+202_92+204dup
XR_001746958.1:n.92+202_92+204dup