Canonical Allele Identifier: CA1741920

Gene: GGCX

Linked Data

• dbSNP Id: rs368038677
• ExAC: 2:85780374 T / C
• gnomAD v2: 2-85780374-T-C
• gnomAD v3: 2-85553251-T-C
• gnomAD v4: 2-85553251-T-C
• MyVariant Identifiers: chr2:g.85780374T>C (hg19) ; chr2:g.85553251T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553251T>C , CM000664.2:g.85553251T>C	GRCh38
NC_000002.11:g.85780374T>C , CM000664.1:g.85780374T>C	GRCh37
NC_000002.10:g.85633885T>C	NCBI36
NG_011811.2:g.13284A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5180A>G
ENST00000482662.2:n.3587A>G
ENST00000685865.1:n.1539A>G
ENST00000687250.1:n.1239A>G
ENST00000687995.1:n.1488A>G
ENST00000688205.1:c.*729A>G	ENSP00000509673.1:n.*729A>G
ENST00000688788.1:n.1375A>G
ENST00000689276.1:c.1067A>G	ENSP00000510012.1:p.Tyr356Cys
ENST00000689576.1:c.1136A>G	ENSP00000508712.1:p.Tyr379Cys
ENST00000690108.1:c.*792A>G	ENSP00000510617.1:n.*792A>G
ENST00000690468.1:c.857A>G	ENSP00000509078.1:p.Tyr286Cys
ENST00000690595.1:c.461A>G	ENSP00000508979.1:p.Tyr154Cys
ENST00000691348.1:c.965A>G	ENSP00000509369.1:p.Tyr322Cys
ENST00000691410.1:c.*713A>G	ENSP00000508479.1:n.*713A>G
ENST00000693287.1:c.452A>G	ENSP00000510264.1:p.Tyr151Cys
ENST00000693681.1:c.449A>G	ENSP00000510789.1:p.Tyr150Cys
ENST00000233838.9:c.1136A>G MANE Select	ENSP00000233838.3:p.Tyr379Cys
ENST00000233838.8:c.1136A>G	ENSP00000233838.3:p.Tyr379Cys
ENST00000430215.7:c.965A>G	ENSP00000408045.3:p.Tyr322Cys
ENST00000465637.5:n.179-5247A>G
ENST00000473665.1:n.629A>G
ENST00000482662.1:n.553A>G
NM_000821.5:c.1136A>G	NP_000812.2:p.Tyr379Cys
NM_000821.6:c.1136A>G	NP_000812.2:p.Tyr379Cys
NM_001142269.2:c.965A>G	NP_001135741.1:p.Tyr322Cys
NM_001142269.3:c.965A>G	NP_001135741.1:p.Tyr322Cys
XM_005264259.3:c.1136A>G	XP_005264316.1:p.Tyr379Cys
XM_011532764.1:c.314A>G	XP_011531066.1:p.Tyr105Cys
XM_011532765.1:c.314A>G	XP_011531067.1:p.Tyr105Cys
XR_939677.1:n.1201A>G
XM_005264259.5:c.1136A>G	XP_005264316.1:p.Tyr379Cys
XM_011532764.3:c.314A>G	XP_011531066.1:p.Tyr105Cys
XM_011532765.3:c.314A>G	XP_011531067.1:p.Tyr105Cys
XM_017003803.2:c.965A>G	XP_016859292.1:p.Tyr322Cys
XR_001738703.2:n.1201A>G
NM_000821.7:c.1136A>G MANE Select	NP_000812.2:p.Tyr379Cys
NM_001142269.4:c.965A>G	NP_001135741.1:p.Tyr322Cys