Canonical Allele Identifier: CA5283055

Gene: HMCN2

Linked Data

• dbSNP Id: rs369343335
• ExAC: 9:133308852 C / T
• gnomAD v2: 9-133308852-C-T
• gnomAD v3: 9-130433465-C-T
• gnomAD v4: 9-130433465-C-T
• MyVariant Identifiers: chr9:g.133308852C>T (hg19) ; chr9:g.130433465C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433465C>T , CM000671.2:g.130433465C>T	GRCh38
NC_000009.11:g.133308852C>T , CM000671.1:g.133308852C>T	GRCh37
NC_000009.10:g.132298673C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14955C>T	ENSP00000485357.2:p.Thr4985=
ENST00000683500.2:c.15012C>T MANE Select	ENSP00000508292.2:p.Thr5004=
ENST00000623487.1:n.3358C>T
ENST00000624552.3:c.14952C>T	ENSP00000485357.1:p.Thr4984=
NM_001291815.1:c.15012C>T	NP_001278744.1:p.Thr5004=
XM_011518465.1:c.14889C>T	XP_011516767.1:p.Thr4963=
XM_011518466.1:c.14880C>T	XP_011516768.1:p.Thr4960=
XM_011518467.1:c.14835C>T	XP_011516769.1:p.Thr4945=
NM_001291815.2:c.15012C>T MANE Select	NP_001278744.1:p.Thr5004=
XM_011518465.2:c.14889C>T	XP_011516767.1:p.Thr4963=
XM_011518466.2:c.14880C>T	XP_011516768.1:p.Thr4960=
XM_011518467.2:c.14835C>T	XP_011516769.1:p.Thr4945=
XM_017014585.1:c.11793C>T	XP_016870074.1:p.Thr3931=
XM_017014586.1:c.7590C>T	XP_016870075.1:p.Thr2530=
XR_001746957.1:n.92+156G>A
XR_001746958.1:n.92+156G>A