Canonical Allele Identifier: CA590945145

Gene: HMCN2

Linked Data

• dbSNP Id: rs1169747504
• gnomAD v2: 9-133308791-A-AGTACCGGCTGCTGCC
• gnomAD v3: 9-130433404-A-AGTACCGGCTGCTGCC
• gnomAD v4: 9-130433404-A-AGTACCGGCTGCTGCC
• MyVariant Identifiers: chr9:g.133308791_133308792insGTACCGGCTGCTGCC (hg19) ; chr9:g.130433404_130433405insGTACCGGCTGCTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433406_130433420dup , CM000671.2:g.130433406_130433420dup	GRCh38
NC_000009.11:g.133308793_133308807dup , CM000671.1:g.133308793_133308807dup	GRCh37
NC_000009.10:g.132298614_132298628dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14896_14910dup	ENSP00000485357.2:p.Pro4970_Leu4971insTyrArgLeuLeuPro
ENST00000683500.2:c.14953_14967dup MANE Select	ENSP00000508292.2:p.Pro4989_Leu4990insTyrArgLeuLeuPro
ENST00000623487.1:n.3299_3313dup
ENST00000624552.3:c.14893_14907dup	ENSP00000485357.1:p.Pro4969_Leu4970insTyrArgLeuLeuPro
NM_001291815.1:c.14953_14967dup	NP_001278744.1:p.Pro4989_Leu4990insTyrArgLeuLeuPro
XM_011518465.1:c.14830_14844dup	XP_011516767.1:p.Pro4948_Leu4949insTyrArgLeuLeuPro
XM_011518466.1:c.14821_14835dup	XP_011516768.1:p.Pro4945_Leu4946insTyrArgLeuLeuPro
XM_011518467.1:c.14776_14790dup	XP_011516769.1:p.Pro4930_Leu4931insTyrArgLeuLeuPro
NM_001291815.2:c.14953_14967dup MANE Select	NP_001278744.1:p.Pro4989_Leu4990insTyrArgLeuLeuPro
XM_011518465.2:c.14830_14844dup	XP_011516767.1:p.Pro4948_Leu4949insTyrArgLeuLeuPro
XM_011518466.2:c.14821_14835dup	XP_011516768.1:p.Pro4945_Leu4946insTyrArgLeuLeuPro
XM_011518467.2:c.14776_14790dup	XP_011516769.1:p.Pro4930_Leu4931insTyrArgLeuLeuPro
XM_017014585.1:c.11734_11748dup	XP_016870074.1:p.Pro3916_Leu3917insTyrArgLeuLeuPro
XM_017014586.1:c.7531_7545dup	XP_016870075.1:p.Pro2515_Leu2516insTyrArgLeuLeuPro
XR_001746957.1:n.92+202_92+216dup
XR_001746958.1:n.92+202_92+216dup