Canonical Allele Identifier: CA347487300

Gene: GGCX

Linked Data

• COSMIC: COSM4427839
• MyVariant Identifiers: chr2:g.85780363G>C (hg19) ; chr2:g.85553240G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553240G>C , CM000664.2:g.85553240G>C	GRCh38
NC_000002.11:g.85780363G>C , CM000664.1:g.85780363G>C	GRCh37
NC_000002.10:g.85633874G>C	NCBI36
NG_011811.2:g.13295C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5191C>G
ENST00000482662.2:n.3598C>G
ENST00000685865.1:n.1550C>G
ENST00000687250.1:n.1250C>G
ENST00000687995.1:n.1499C>G
ENST00000688205.1:c.*740C>G	ENSP00000509673.1:n.*740C>G
ENST00000688788.1:n.1386C>G
ENST00000689276.1:c.1078C>G	ENSP00000510012.1:p.Leu360Val
ENST00000689576.1:c.1147C>G	ENSP00000508712.1:p.Leu383Val
ENST00000690108.1:c.*803C>G	ENSP00000510617.1:n.*803C>G
ENST00000690468.1:c.868C>G	ENSP00000509078.1:p.Leu290Val
ENST00000690595.1:c.472C>G	ENSP00000508979.1:p.Leu158Val
ENST00000691348.1:c.976C>G	ENSP00000509369.1:p.Leu326Val
ENST00000691410.1:c.*724C>G	ENSP00000508479.1:n.*724C>G
ENST00000693287.1:c.463C>G	ENSP00000510264.1:p.Leu155Val
ENST00000693681.1:c.460C>G	ENSP00000510789.1:p.Leu154Val
ENST00000233838.9:c.1147C>G MANE Select	ENSP00000233838.3:p.Leu383Val
ENST00000233838.8:c.1147C>G	ENSP00000233838.3:p.Leu383Val
ENST00000430215.7:c.976C>G	ENSP00000408045.3:p.Leu326Val
ENST00000465637.5:n.179-5236C>G
ENST00000473665.1:n.640C>G
ENST00000482662.1:n.564C>G
NM_000821.5:c.1147C>G	NP_000812.2:p.Leu383Val
NM_000821.6:c.1147C>G	NP_000812.2:p.Leu383Val
NM_001142269.2:c.976C>G	NP_001135741.1:p.Leu326Val
NM_001142269.3:c.976C>G	NP_001135741.1:p.Leu326Val
XM_005264259.3:c.1147C>G	XP_005264316.1:p.Leu383Val
XM_011532764.1:c.325C>G	XP_011531066.1:p.Leu109Val
XM_011532765.1:c.325C>G	XP_011531067.1:p.Leu109Val
XR_939677.1:n.1212C>G
XM_005264259.5:c.1147C>G	XP_005264316.1:p.Leu383Val
XM_011532764.3:c.325C>G	XP_011531066.1:p.Leu109Val
XM_011532765.3:c.325C>G	XP_011531067.1:p.Leu109Val
XM_017003803.2:c.976C>G	XP_016859292.1:p.Leu326Val
XR_001738703.2:n.1212C>G
NM_000821.7:c.1147C>G MANE Select	NP_000812.2:p.Leu383Val
NM_001142269.4:c.976C>G	NP_001135741.1:p.Leu326Val