Canonical Allele Identifier: CA860454528

Gene: HMCN2

Linked Data

• dbSNP Id: rs1342454600
• gnomAD v3: 9-130433429-G-GGGCGTGCGCGCCCACCAC
• gnomAD v4: 9-130433429-G-GGGCGTGCGCGCCCACCAC
• MyVariant Identifiers: chr9:g.133308816_133308817insGGCGTGCGCGCCCACCAC (hg19) ; chr9:g.130433429_130433430insGGCGTGCGCGCCCACCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433431_130433448dup , CM000671.2:g.130433431_130433448dup	GRCh38
NC_000009.11:g.133308818_133308835dup , CM000671.1:g.133308818_133308835dup	GRCh37
NC_000009.10:g.132298639_132298656dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14921_14938dup	ENSP00000485357.2:p.His4979_Asp4980insGlyValArgAlaHisHis
ENST00000683500.2:c.14978_14995dup MANE Select	ENSP00000508292.2:p.His4998_Asp4999insGlyValArgAlaHisHis
ENST00000623487.1:n.3324_3341dup
ENST00000624552.3:c.14918_14935dup	ENSP00000485357.1:p.His4978_Asp4979insGlyValArgAlaHisHis
NM_001291815.1:c.14978_14995dup	NP_001278744.1:p.His4998_Asp4999insGlyValArgAlaHisHis
XM_011518465.1:c.14855_14872dup	XP_011516767.1:p.His4957_Asp4958insGlyValArgAlaHisHis
XM_011518466.1:c.14846_14863dup	XP_011516768.1:p.His4954_Asp4955insGlyValArgAlaHisHis
XM_011518467.1:c.14801_14818dup	XP_011516769.1:p.His4939_Asp4940insGlyValArgAlaHisHis
NM_001291815.2:c.14978_14995dup MANE Select	NP_001278744.1:p.His4998_Asp4999insGlyValArgAlaHisHis
XM_011518465.2:c.14855_14872dup	XP_011516767.1:p.His4957_Asp4958insGlyValArgAlaHisHis
XM_011518466.2:c.14846_14863dup	XP_011516768.1:p.His4954_Asp4955insGlyValArgAlaHisHis
XM_011518467.2:c.14801_14818dup	XP_011516769.1:p.His4939_Asp4940insGlyValArgAlaHisHis
XM_017014585.1:c.11759_11776dup	XP_016870074.1:p.His3925_Asp3926insGlyValArgAlaHisHis
XM_017014586.1:c.7556_7573dup	XP_016870075.1:p.His2524_Asp2525insGlyValArgAlaHisHis
XR_001746957.1:n.92+174_92+191dup
XR_001746958.1:n.92+174_92+191dup