Canonical Allele Identifier: CA2692135579

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433383-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433386del , CM000671.2:g.130433386del	GRCh38
NC_000009.11:g.133308773del , CM000671.1:g.133308773del	GRCh37
NC_000009.10:g.132298594del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14876del	ENSP00000485357.2:p.Gly4959AlafsTer?
ENST00000683500.2:c.14933del MANE Select	ENSP00000508292.2:p.Gly4978AlafsTer?
ENST00000623487.1:n.3279del
ENST00000624552.3:c.14873del	ENSP00000485357.1:p.Gly4958AlafsTer?
NM_001291815.1:c.14933del	NP_001278744.1:p.Gly4978AlafsTer?
XM_011518465.1:c.14810del	XP_011516767.1:p.Gly4937AlafsTer?
XM_011518466.1:c.14801del	XP_011516768.1:p.Gly4934AlafsTer?
XM_011518467.1:c.14756del	XP_011516769.1:p.Gly4919AlafsTer?
NM_001291815.2:c.14933del MANE Select	NP_001278744.1:p.Gly4978AlafsTer?
XM_011518465.2:c.14810del	XP_011516767.1:p.Gly4937AlafsTer?
XM_011518466.2:c.14801del	XP_011516768.1:p.Gly4934AlafsTer?
XM_011518467.2:c.14756del	XP_011516769.1:p.Gly4919AlafsTer?
XM_017014585.1:c.11714del	XP_016870074.1:p.Gly3905AlafsTer?
XM_017014586.1:c.7511del	XP_016870075.1:p.Gly2504AlafsTer?
XR_001746957.1:n.92+237del
XR_001746958.1:n.92+237del