Canonical Allele Identifier: CA5283044

Gene: HMCN2

Linked Data

• dbSNP Id: rs779386677
• ExAC: 9:133308770 C / T
• gnomAD v2: 9-133308770-C-T
• gnomAD v4: 9-130433383-C-T
• MyVariant Identifiers: chr9:g.133308770C>T (hg19) ; chr9:g.130433383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433383C>T , CM000671.2:g.130433383C>T	GRCh38
NC_000009.11:g.133308770C>T , CM000671.1:g.133308770C>T	GRCh37
NC_000009.10:g.132298591C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14873C>T	ENSP00000485357.2:p.Thr4958Met
ENST00000683500.2:c.14930C>T MANE Select	ENSP00000508292.2:p.Thr4977Met
ENST00000623487.1:n.3276C>T
ENST00000624552.3:c.14870C>T	ENSP00000485357.1:p.Thr4957Met
NM_001291815.1:c.14930C>T	NP_001278744.1:p.Thr4977Met
XM_011518465.1:c.14807C>T	XP_011516767.1:p.Thr4936Met
XM_011518466.1:c.14798C>T	XP_011516768.1:p.Thr4933Met
XM_011518467.1:c.14753C>T	XP_011516769.1:p.Thr4918Met
NM_001291815.2:c.14930C>T MANE Select	NP_001278744.1:p.Thr4977Met
XM_011518465.2:c.14807C>T	XP_011516767.1:p.Thr4936Met
XM_011518466.2:c.14798C>T	XP_011516768.1:p.Thr4933Met
XM_011518467.2:c.14753C>T	XP_011516769.1:p.Thr4918Met
XM_017014585.1:c.11711C>T	XP_016870074.1:p.Thr3904Met
XM_017014586.1:c.7508C>T	XP_016870075.1:p.Thr2503Met
XR_001746957.1:n.92+238G>A
XR_001746958.1:n.92+238G>A