Canonical Allele Identifier: CA5283049

Gene: HMCN2

Linked Data

• dbSNP Id: rs769432528
• ExAC: 9:133308818 G / T
• gnomAD v2: 9-133308818-G-T
• gnomAD v4: 9-130433431-G-T
• MyVariant Identifiers: chr9:g.133308818G>T (hg19) ; chr9:g.130433431G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433431G>T , CM000671.2:g.130433431G>T	GRCh38
NC_000009.11:g.133308818G>T , CM000671.1:g.133308818G>T	GRCh37
NC_000009.10:g.132298639G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14921G>T	ENSP00000485357.2:p.Gly4974Val
ENST00000683500.2:c.14978G>T MANE Select	ENSP00000508292.2:p.Gly4993Val
ENST00000623487.1:n.3324G>T
ENST00000624552.3:c.14918G>T	ENSP00000485357.1:p.Gly4973Val
NM_001291815.1:c.14978G>T	NP_001278744.1:p.Gly4993Val
XM_011518465.1:c.14855G>T	XP_011516767.1:p.Gly4952Val
XM_011518466.1:c.14846G>T	XP_011516768.1:p.Gly4949Val
XM_011518467.1:c.14801G>T	XP_011516769.1:p.Gly4934Val
NM_001291815.2:c.14978G>T MANE Select	NP_001278744.1:p.Gly4993Val
XM_011518465.2:c.14855G>T	XP_011516767.1:p.Gly4952Val
XM_011518466.2:c.14846G>T	XP_011516768.1:p.Gly4949Val
XM_011518467.2:c.14801G>T	XP_011516769.1:p.Gly4934Val
XM_017014585.1:c.11759G>T	XP_016870074.1:p.Gly3920Val
XM_017014586.1:c.7556G>T	XP_016870075.1:p.Gly2519Val
XR_001746957.1:n.92+190C>A
XR_001746958.1:n.92+190C>A