Canonical Allele Identifier: CA347484809

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85778976A>C (hg19) ; chr2:g.85551853A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551853A>C , CM000664.2:g.85551853A>C	GRCh38
NC_000002.11:g.85778976A>C , CM000664.1:g.85778976A>C	GRCh37
NC_000002.10:g.85632487A>C	NCBI36
NG_011811.2:g.14682T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.6046T>G
ENST00000482662.2:n.4453T>G
ENST00000685865.1:n.2405T>G
ENST00000687250.1:n.2105T>G
ENST00000687995.1:n.1920T>G
ENST00000688205.1:c.*1161T>G	ENSP00000509673.1:n.*1161T>G
ENST00000688788.1:n.1807T>G
ENST00000689276.1:c.1499T>G	ENSP00000510012.1:p.Leu500Arg
ENST00000689576.1:c.*187T>G	ENSP00000508712.1:n.*187T>G
ENST00000690108.1:c.*1224T>G	ENSP00000510617.1:n.*1224T>G
ENST00000690468.1:c.*120T>G	ENSP00000509078.1:n.*120T>G
ENST00000690595.1:c.893T>G	ENSP00000508979.1:p.Leu298Arg
ENST00000691348.1:c.*120T>G	ENSP00000509369.1:n.*120T>G
ENST00000691410.1:c.*1145T>G	ENSP00000508479.1:n.*1145T>G
ENST00000693287.1:c.884T>G	ENSP00000510264.1:p.Leu295Arg
ENST00000693681.1:c.881T>G	ENSP00000510789.1:p.Leu294Arg
ENST00000233838.9:c.1568T>G MANE Select	ENSP00000233838.3:p.Leu523Arg
ENST00000233838.8:c.1568T>G	ENSP00000233838.3:p.Leu523Arg
ENST00000430215.7:c.1397T>G	ENSP00000408045.3:p.Leu466Arg
ENST00000465637.5:n.179-3849T>G
NM_000821.5:c.1568T>G	NP_000812.2:p.Leu523Arg
NM_000821.6:c.1568T>G	NP_000812.2:p.Leu523Arg
NM_001142269.2:c.1397T>G	NP_001135741.1:p.Leu466Arg
NM_001142269.3:c.1397T>G	NP_001135741.1:p.Leu466Arg
XM_005264259.3:c.1568T>G	XP_005264316.1:p.Leu523Arg
XM_011532764.1:c.746T>G	XP_011531066.1:p.Leu249Arg
XM_011532765.1:c.746T>G	XP_011531067.1:p.Leu249Arg
XR_939677.1:n.1481T>G
XM_005264259.5:c.1568T>G	XP_005264316.1:p.Leu523Arg
XM_011532764.3:c.746T>G	XP_011531066.1:p.Leu249Arg
XM_011532765.3:c.746T>G	XP_011531067.1:p.Leu249Arg
XM_017003803.2:c.1397T>G	XP_016859292.1:p.Leu466Arg
XR_001738703.2:n.1481T>G
NM_000821.7:c.1568T>G MANE Select	NP_000812.2:p.Leu523Arg
NM_001142269.4:c.1397T>G	NP_001135741.1:p.Leu466Arg