Canonical Allele Identifier: CA375219211

Gene: HMCN2

Linked Data

• dbSNP Id: rs1844880570
• gnomAD v4: 9-130433370-C-A
• MyVariant Identifiers: chr9:g.133308757C>A (hg19) ; chr9:g.130433370C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433370C>A , CM000671.2:g.130433370C>A	GRCh38
NC_000009.11:g.133308757C>A , CM000671.1:g.133308757C>A	GRCh37
NC_000009.10:g.132298578C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14860C>A	ENSP00000485357.2:p.Gln4954Lys
ENST00000683500.2:c.14917C>A MANE Select	ENSP00000508292.2:p.Gln4973Lys
ENST00000623487.1:n.3263C>A
ENST00000624552.3:c.14857C>A	ENSP00000485357.1:p.Gln4953Lys
NM_001291815.1:c.14917C>A	NP_001278744.1:p.Gln4973Lys
XM_011518465.1:c.14794C>A	XP_011516767.1:p.Gln4932Lys
XM_011518466.1:c.14785C>A	XP_011516768.1:p.Gln4929Lys
XM_011518467.1:c.14740C>A	XP_011516769.1:p.Gln4914Lys
NM_001291815.2:c.14917C>A MANE Select	NP_001278744.1:p.Gln4973Lys
XM_011518465.2:c.14794C>A	XP_011516767.1:p.Gln4932Lys
XM_011518466.2:c.14785C>A	XP_011516768.1:p.Gln4929Lys
XM_011518467.2:c.14740C>A	XP_011516769.1:p.Gln4914Lys
XM_017014585.1:c.11698C>A	XP_016870074.1:p.Gln3900Lys
XM_017014586.1:c.7495C>A	XP_016870075.1:p.Gln2499Lys
XR_001746957.1:n.92+251G>T
XR_001746958.1:n.92+251G>T