Canonical Allele Identifier: CA347487380

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780383A>C (hg19) ; chr2:g.85553260A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553260A>C , CM000664.2:g.85553260A>C	GRCh38
NC_000002.11:g.85780383A>C , CM000664.1:g.85780383A>C	GRCh37
NC_000002.10:g.85633894A>C	NCBI36
NG_011811.2:g.13275T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5171T>G
ENST00000482662.2:n.3578T>G
ENST00000685865.1:n.1530T>G
ENST00000687250.1:n.1230T>G
ENST00000687995.1:n.1479T>G
ENST00000688205.1:c.*720T>G	ENSP00000509673.1:n.*720T>G
ENST00000688788.1:n.1366T>G
ENST00000689276.1:c.1058T>G	ENSP00000510012.1:p.Phe353Cys
ENST00000689576.1:c.1127T>G	ENSP00000508712.1:p.Phe376Cys
ENST00000690108.1:c.*783T>G	ENSP00000510617.1:n.*783T>G
ENST00000690468.1:c.848T>G	ENSP00000509078.1:p.Phe283Cys
ENST00000690595.1:c.452T>G	ENSP00000508979.1:p.Phe151Cys
ENST00000691348.1:c.956T>G	ENSP00000509369.1:p.Phe319Cys
ENST00000691410.1:c.*704T>G	ENSP00000508479.1:n.*704T>G
ENST00000693287.1:c.443T>G	ENSP00000510264.1:p.Phe148Cys
ENST00000693681.1:c.440T>G	ENSP00000510789.1:p.Phe147Cys
ENST00000233838.9:c.1127T>G MANE Select	ENSP00000233838.3:p.Phe376Cys
ENST00000233838.8:c.1127T>G	ENSP00000233838.3:p.Phe376Cys
ENST00000430215.7:c.956T>G	ENSP00000408045.3:p.Phe319Cys
ENST00000465637.5:n.179-5256T>G
ENST00000473665.1:n.620T>G
ENST00000482662.1:n.544T>G
NM_000821.5:c.1127T>G	NP_000812.2:p.Phe376Cys
NM_000821.6:c.1127T>G	NP_000812.2:p.Phe376Cys
NM_001142269.2:c.956T>G	NP_001135741.1:p.Phe319Cys
NM_001142269.3:c.956T>G	NP_001135741.1:p.Phe319Cys
XM_005264259.3:c.1127T>G	XP_005264316.1:p.Phe376Cys
XM_011532764.1:c.305T>G	XP_011531066.1:p.Phe102Cys
XM_011532765.1:c.305T>G	XP_011531067.1:p.Phe102Cys
XR_939677.1:n.1192T>G
XM_005264259.5:c.1127T>G	XP_005264316.1:p.Phe376Cys
XM_011532764.3:c.305T>G	XP_011531066.1:p.Phe102Cys
XM_011532765.3:c.305T>G	XP_011531067.1:p.Phe102Cys
XM_017003803.2:c.956T>G	XP_016859292.1:p.Phe319Cys
XR_001738703.2:n.1192T>G
NM_000821.7:c.1127T>G MANE Select	NP_000812.2:p.Phe376Cys
NM_001142269.4:c.956T>G	NP_001135741.1:p.Phe319Cys