Canonical Allele Identifier: CA2692135586

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433427-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433428del , CM000671.2:g.130433428del	GRCh38
NC_000009.11:g.133308815del , CM000671.1:g.133308815del	GRCh37
NC_000009.10:g.132298636del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14918del	ENSP00000485357.2:p.Leu4973ArgfsTer?
ENST00000683500.2:c.14975del MANE Select	ENSP00000508292.2:p.Leu4992ArgfsTer?
ENST00000623487.1:n.3321del
ENST00000624552.3:c.14915del	ENSP00000485357.1:p.Leu4972ArgfsTer?
NM_001291815.1:c.14975del	NP_001278744.1:p.Leu4992ArgfsTer?
XM_011518465.1:c.14852del	XP_011516767.1:p.Leu4951ArgfsTer?
XM_011518466.1:c.14843del	XP_011516768.1:p.Leu4948ArgfsTer?
XM_011518467.1:c.14798del	XP_011516769.1:p.Leu4933ArgfsTer?
NM_001291815.2:c.14975del MANE Select	NP_001278744.1:p.Leu4992ArgfsTer?
XM_011518465.2:c.14852del	XP_011516767.1:p.Leu4951ArgfsTer?
XM_011518466.2:c.14843del	XP_011516768.1:p.Leu4948ArgfsTer?
XM_011518467.2:c.14798del	XP_011516769.1:p.Leu4933ArgfsTer?
XM_017014585.1:c.11756del	XP_016870074.1:p.Leu3919ArgfsTer?
XM_017014586.1:c.7553del	XP_016870075.1:p.Leu2518ArgfsTer?
XR_001746957.1:n.92+193del
XR_001746958.1:n.92+193del