Canonical Allele Identifier: CA860454588

Gene: HMCN2

Linked Data

• dbSNP Id: rs1389760091
• gnomAD v3: 9-130433452-T-TG
• gnomAD v4: 9-130433452-T-TG
• MyVariant Identifiers: chr9:g.133308839_133308840insG (hg19) ; chr9:g.130433452_130433453insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433454dup , CM000671.2:g.130433454dup	GRCh38
NC_000009.11:g.133308841dup , CM000671.1:g.133308841dup	GRCh37
NC_000009.10:g.132298662dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14944dup	ENSP00000485357.2:p.Ala4982GlyfsTer?
ENST00000683500.2:c.15001dup MANE Select	ENSP00000508292.2:p.Ala5001GlyfsTer?
ENST00000623487.1:n.3347dup
ENST00000624552.3:c.14941dup	ENSP00000485357.1:p.Ala4981GlyfsTer?
NM_001291815.1:c.15001dup	NP_001278744.1:p.Ala5001GlyfsTer?
XM_011518465.1:c.14878dup	XP_011516767.1:p.Ala4960GlyfsTer?
XM_011518466.1:c.14869dup	XP_011516768.1:p.Ala4957GlyfsTer?
XM_011518467.1:c.14824dup	XP_011516769.1:p.Ala4942GlyfsTer?
NM_001291815.2:c.15001dup MANE Select	NP_001278744.1:p.Ala5001GlyfsTer?
XM_011518465.2:c.14878dup	XP_011516767.1:p.Ala4960GlyfsTer?
XM_011518466.2:c.14869dup	XP_011516768.1:p.Ala4957GlyfsTer?
XM_011518467.2:c.14824dup	XP_011516769.1:p.Ala4942GlyfsTer?
XM_017014585.1:c.11782dup	XP_016870074.1:p.Ala3928GlyfsTer?
XM_017014586.1:c.7579dup	XP_016870075.1:p.Ala2527GlyfsTer?
XR_001746957.1:n.92+168dup
XR_001746958.1:n.92+168dup