Canonical Allele Identifier: CA860454515

Gene: HMCN2

Linked Data

• dbSNP Id: rs1394741166
• gnomAD v3: 9-130433423-G-GCCGCTT
• gnomAD v4: 9-130433423-G-GCCGCTT
• MyVariant Identifiers: chr9:g.133308810_133308811insCCGCTT (hg19) ; chr9:g.130433423_130433424insCCGCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433425_130433426insGCTTCC , CM000671.2:g.130433425_130433426insGCTTCC	GRCh38
NC_000009.11:g.133308812_133308813insGCTTCC , CM000671.1:g.133308812_133308813insGCTTCC	GRCh37
NC_000009.10:g.132298633_132298634insGCTTCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14915_14916insGCTTCC	ENSP00000485357.2:p.Pro4972_Leu4973insLeuPro
ENST00000683500.2:c.14972_14973insGCTTCC MANE Select	ENSP00000508292.2:p.Pro4991_Leu4992insLeuPro
ENST00000623487.1:n.3318_3319insGCTTCC
ENST00000624552.3:c.14912_14913insGCTTCC	ENSP00000485357.1:p.Pro4971_Leu4972insLeuPro
NM_001291815.1:c.14972_14973insGCTTCC	NP_001278744.1:p.Pro4991_Leu4992insLeuPro
XM_011518465.1:c.14849_14850insGCTTCC	XP_011516767.1:p.Pro4950_Leu4951insLeuPro
XM_011518466.1:c.14840_14841insGCTTCC	XP_011516768.1:p.Pro4947_Leu4948insLeuPro
XM_011518467.1:c.14795_14796insGCTTCC	XP_011516769.1:p.Pro4932_Leu4933insLeuPro
NM_001291815.2:c.14972_14973insGCTTCC MANE Select	NP_001278744.1:p.Pro4991_Leu4992insLeuPro
XM_011518465.2:c.14849_14850insGCTTCC	XP_011516767.1:p.Pro4950_Leu4951insLeuPro
XM_011518466.2:c.14840_14841insGCTTCC	XP_011516768.1:p.Pro4947_Leu4948insLeuPro
XM_011518467.2:c.14795_14796insGCTTCC	XP_011516769.1:p.Pro4932_Leu4933insLeuPro
XM_017014585.1:c.11753_11754insGCTTCC	XP_016870074.1:p.Pro3918_Leu3919insLeuPro
XM_017014586.1:c.7550_7551insGCTTCC	XP_016870075.1:p.Pro2517_Leu2518insLeuPro
XR_001746957.1:n.92+197_92+198insAAGCGG
XR_001746958.1:n.92+197_92+198insAAGCGG