Canonical Allele Identifier: CA467387196

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433384-G-C
• MyVariant Identifiers: chr9:g.133308771G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433384G>C , CM000671.2:g.130433384G>C	GRCh38
NC_000009.11:g.133308771G>C , CM000671.1:g.133308771G>C	GRCh37
NC_000009.10:g.132298592G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14874G>C	ENSP00000485357.2:p.Thr4958=
ENST00000683500.2:c.14931G>C MANE Select	ENSP00000508292.2:p.Thr4977=
ENST00000623487.1:n.3277G>C
ENST00000624552.3:c.14871G>C	ENSP00000485357.1:p.Thr4957=
NM_001291815.1:c.14931G>C	NP_001278744.1:p.Thr4977=
XM_011518465.1:c.14808G>C	XP_011516767.1:p.Thr4936=
XM_011518466.1:c.14799G>C	XP_011516768.1:p.Thr4933=
XM_011518467.1:c.14754G>C	XP_011516769.1:p.Thr4918=
NM_001291815.2:c.14931G>C MANE Select	NP_001278744.1:p.Thr4977=
XM_011518465.2:c.14808G>C	XP_011516767.1:p.Thr4936=
XM_011518466.2:c.14799G>C	XP_011516768.1:p.Thr4933=
XM_011518467.2:c.14754G>C	XP_011516769.1:p.Thr4918=
XM_017014585.1:c.11712G>C	XP_016870074.1:p.Thr3904=
XM_017014586.1:c.7509G>C	XP_016870075.1:p.Thr2503=
XR_001746957.1:n.92+237C>G
XR_001746958.1:n.92+237C>G