Canonical Allele Identifier: CA347484750

Gene: GGCX

Linked Data

• dbSNP Id: rs769029047
• gnomAD v2: 2-85778950-T-C
• gnomAD v4: 2-85551827-T-C
• MyVariant Identifiers: chr2:g.85778950T>C (hg19) ; chr2:g.85551827T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551827T>C , CM000664.2:g.85551827T>C	GRCh38
NC_000002.11:g.85778950T>C , CM000664.1:g.85778950T>C	GRCh37
NC_000002.10:g.85632461T>C	NCBI36
NG_011811.2:g.14708A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6072A>G
ENST00000482662.2:n.4479A>G
ENST00000685865.1:n.2431A>G
ENST00000687250.1:n.2131A>G
ENST00000687995.1:n.1946A>G
ENST00000688205.1:c.*1187A>G	ENSP00000509673.1:n.*1187A>G
ENST00000688788.1:n.1833A>G
ENST00000689276.1:c.1525A>G	ENSP00000510012.1:p.Ile509Val
ENST00000689576.1:c.*213A>G	ENSP00000508712.1:n.*213A>G
ENST00000690108.1:c.*1250A>G	ENSP00000510617.1:n.*1250A>G
ENST00000690468.1:c.*146A>G	ENSP00000509078.1:n.*146A>G
ENST00000690595.1:c.919A>G	ENSP00000508979.1:p.Ile307Val
ENST00000691348.1:c.*146A>G	ENSP00000509369.1:n.*146A>G
ENST00000691410.1:c.*1171A>G	ENSP00000508479.1:n.*1171A>G
ENST00000693287.1:c.910A>G	ENSP00000510264.1:p.Ile304Val
ENST00000693681.1:c.907A>G	ENSP00000510789.1:p.Ile303Val
ENST00000233838.9:c.1594A>G MANE Select	ENSP00000233838.3:p.Ile532Val
ENST00000233838.8:c.1594A>G	ENSP00000233838.3:p.Ile532Val
ENST00000430215.7:c.1423A>G	ENSP00000408045.3:p.Ile475Val
ENST00000465637.5:n.179-3823A>G
NM_000821.5:c.1594A>G	NP_000812.2:p.Ile532Val
NM_000821.6:c.1594A>G	NP_000812.2:p.Ile532Val
NM_001142269.2:c.1423A>G	NP_001135741.1:p.Ile475Val
NM_001142269.3:c.1423A>G	NP_001135741.1:p.Ile475Val
XM_005264259.3:c.1594A>G	XP_005264316.1:p.Ile532Val
XM_011532764.1:c.772A>G	XP_011531066.1:p.Ile258Val
XM_011532765.1:c.772A>G	XP_011531067.1:p.Ile258Val
XR_939677.1:n.1507A>G
XM_005264259.5:c.1594A>G	XP_005264316.1:p.Ile532Val
XM_011532764.3:c.772A>G	XP_011531066.1:p.Ile258Val
XM_011532765.3:c.772A>G	XP_011531067.1:p.Ile258Val
XM_017003803.2:c.1423A>G	XP_016859292.1:p.Ile475Val
XR_001738703.2:n.1507A>G
NM_000821.7:c.1594A>G MANE Select	NP_000812.2:p.Ile532Val
NM_001142269.4:c.1423A>G	NP_001135741.1:p.Ile475Val