Canonical Allele Identifier: CA2692135583

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433408-CCGGCTGCTGCCGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433409_130433422del , CM000671.2:g.130433409_130433422del	GRCh38
NC_000009.11:g.133308796_133308809del , CM000671.1:g.133308796_133308809del	GRCh37
NC_000009.10:g.132298617_132298630del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14899_14912del	ENSP00000485357.2:p.Arg4967AlafsTer?
ENST00000683500.2:c.14956_14969del MANE Select	ENSP00000508292.2:p.Arg4986AlafsTer?
ENST00000623487.1:n.3302_3315del
ENST00000624552.3:c.14896_14909del	ENSP00000485357.1:p.Arg4966AlafsTer?
NM_001291815.1:c.14956_14969del	NP_001278744.1:p.Arg4986AlafsTer?
XM_011518465.1:c.14833_14846del	XP_011516767.1:p.Arg4945AlafsTer?
XM_011518466.1:c.14824_14837del	XP_011516768.1:p.Arg4942AlafsTer?
XM_011518467.1:c.14779_14792del	XP_011516769.1:p.Arg4927AlafsTer?
NM_001291815.2:c.14956_14969del MANE Select	NP_001278744.1:p.Arg4986AlafsTer?
XM_011518465.2:c.14833_14846del	XP_011516767.1:p.Arg4945AlafsTer?
XM_011518466.2:c.14824_14837del	XP_011516768.1:p.Arg4942AlafsTer?
XM_011518467.2:c.14779_14792del	XP_011516769.1:p.Arg4927AlafsTer?
XM_017014585.1:c.11737_11750del	XP_016870074.1:p.Arg3913AlafsTer?
XM_017014586.1:c.7534_7547del	XP_016870075.1:p.Arg2512AlafsTer?
XR_001746957.1:n.92+199_92+212del
XR_001746958.1:n.92+199_92+212del