Canonical Allele Identifier: CA2692135591

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433455-C-CCCGCCTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433462_130433469dup , CM000671.2:g.130433462_130433469dup	GRCh38
NC_000009.11:g.133308849_133308856dup , CM000671.1:g.133308849_133308856dup	GRCh37
NC_000009.10:g.132298670_132298677dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14952_14959dup	ENSP00000485357.2:p.Phe4987SerfsTer?
ENST00000683500.2:c.15009_15016dup MANE Select	ENSP00000508292.2:p.Phe5006SerfsTer?
ENST00000623487.1:n.3355_3362dup
ENST00000624552.3:c.14949_14956dup	ENSP00000485357.1:p.Phe4986SerfsTer?
NM_001291815.1:c.15009_15016dup	NP_001278744.1:p.Phe5006SerfsTer?
XM_011518465.1:c.14886_14893dup	XP_011516767.1:p.Phe4965SerfsTer?
XM_011518466.1:c.14877_14884dup	XP_011516768.1:p.Phe4962SerfsTer?
XM_011518467.1:c.14832_14839dup	XP_011516769.1:p.Phe4947SerfsTer?
NM_001291815.2:c.15009_15016dup MANE Select	NP_001278744.1:p.Phe5006SerfsTer?
XM_011518465.2:c.14886_14893dup	XP_011516767.1:p.Phe4965SerfsTer?
XM_011518466.2:c.14877_14884dup	XP_011516768.1:p.Phe4962SerfsTer?
XM_011518467.2:c.14832_14839dup	XP_011516769.1:p.Phe4947SerfsTer?
XM_017014585.1:c.11790_11797dup	XP_016870074.1:p.Phe3933SerfsTer?
XM_017014586.1:c.7587_7594dup	XP_016870075.1:p.Phe2532SerfsTer?
XR_001746957.1:n.92+158_92+165dup
XR_001746958.1:n.92+158_92+165dup