Canonical Allele Identifier: CA2692135588

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433430-GGCGTGCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433433_130433440del , CM000671.2:g.130433433_130433440del	GRCh38
NC_000009.11:g.133308820_133308827del , CM000671.1:g.133308820_133308827del	GRCh37
NC_000009.10:g.132298641_132298648del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14923_14930del	ENSP00000485357.2:p.Val4975ProfsTer?
ENST00000683500.2:c.14980_14987del MANE Select	ENSP00000508292.2:p.Val4994ProfsTer?
ENST00000623487.1:n.3326_3333del
ENST00000624552.3:c.14920_14927del	ENSP00000485357.1:p.Val4974ProfsTer?
NM_001291815.1:c.14980_14987del	NP_001278744.1:p.Val4994ProfsTer?
XM_011518465.1:c.14857_14864del	XP_011516767.1:p.Val4953ProfsTer?
XM_011518466.1:c.14848_14855del	XP_011516768.1:p.Val4950ProfsTer?
XM_011518467.1:c.14803_14810del	XP_011516769.1:p.Val4935ProfsTer?
NM_001291815.2:c.14980_14987del MANE Select	NP_001278744.1:p.Val4994ProfsTer?
XM_011518465.2:c.14857_14864del	XP_011516767.1:p.Val4953ProfsTer?
XM_011518466.2:c.14848_14855del	XP_011516768.1:p.Val4950ProfsTer?
XM_011518467.2:c.14803_14810del	XP_011516769.1:p.Val4935ProfsTer?
XM_017014585.1:c.11761_11768del	XP_016870074.1:p.Val3921ProfsTer?
XM_017014586.1:c.7558_7565del	XP_016870075.1:p.Val2520ProfsTer?
XR_001746957.1:n.92+183_92+190del
XR_001746958.1:n.92+183_92+190del