Canonical Allele Identifier: CA5283048

Gene: HMCN2

Linked Data

• dbSNP Id: rs549817254
• ExAC: 9:133308786 G / T
• gnomAD v2: 9-133308786-G-T
• gnomAD v3: 9-130433399-G-T
• gnomAD v4: 9-130433399-G-T
• MyVariant Identifiers: chr9:g.133308786G>T (hg19) ; chr9:g.130433399G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433399G>T , CM000671.2:g.130433399G>T	GRCh38
NC_000009.11:g.133308786G>T , CM000671.1:g.133308786G>T	GRCh37
NC_000009.10:g.132298607G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000624552.4:c.14889G>T	ENSP00000485357.2:p.Thr4963=
ENST00000683500.2:c.14946G>T MANE Select	ENSP00000508292.2:p.Thr4982=
ENST00000623487.1:n.3292G>T
ENST00000624552.3:c.14886G>T	ENSP00000485357.1:p.Thr4962=
NM_001291815.1:c.14946G>T	NP_001278744.1:p.Thr4982=
XM_011518465.1:c.14823G>T	XP_011516767.1:p.Thr4941=
XM_011518466.1:c.14814G>T	XP_011516768.1:p.Thr4938=
XM_011518467.1:c.14769G>T	XP_011516769.1:p.Thr4923=
NM_001291815.2:c.14946G>T MANE Select	NP_001278744.1:p.Thr4982=
XM_011518465.2:c.14823G>T	XP_011516767.1:p.Thr4941=
XM_011518466.2:c.14814G>T	XP_011516768.1:p.Thr4938=
XM_011518467.2:c.14769G>T	XP_011516769.1:p.Thr4923=
XM_017014585.1:c.11727G>T	XP_016870074.1:p.Thr3909=
XM_017014586.1:c.7524G>T	XP_016870075.1:p.Thr2508=
XR_001746957.1:n.92+222C>A
XR_001746958.1:n.92+222C>A