Canonical Allele Identifier: CA347487302

Gene: GGCX

Linked Data

• COSMIC: COSM261084
• MyVariant Identifiers: chr2:g.85780363G>T (hg19) ; chr2:g.85553240G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5191C>A
ENST00000482662.2:n.3598C>A
ENST00000685865.1:n.1550C>A
ENST00000687250.1:n.1250C>A
ENST00000687995.1:n.1499C>A
ENST00000688205.1:c.*740C>A	ENSP00000509673.1:n.*740C>A
ENST00000688788.1:n.1386C>A
ENST00000689276.1:c.1078C>A	ENSP00000510012.1:p.Leu360Ile
ENST00000689576.1:c.1147C>A	ENSP00000508712.1:p.Leu383Ile
ENST00000690108.1:c.*803C>A	ENSP00000510617.1:n.*803C>A
ENST00000690468.1:c.868C>A	ENSP00000509078.1:p.Leu290Ile
ENST00000690595.1:c.472C>A	ENSP00000508979.1:p.Leu158Ile
ENST00000691348.1:c.976C>A	ENSP00000509369.1:p.Leu326Ile
ENST00000691410.1:c.*724C>A	ENSP00000508479.1:n.*724C>A
ENST00000693287.1:c.463C>A	ENSP00000510264.1:p.Leu155Ile
ENST00000693681.1:c.460C>A	ENSP00000510789.1:p.Leu154Ile
ENST00000233838.9:c.1147C>A MANE Select	ENSP00000233838.3:p.Leu383Ile
ENST00000233838.8:c.1147C>A	ENSP00000233838.3:p.Leu383Ile
ENST00000430215.7:c.976C>A	ENSP00000408045.3:p.Leu326Ile
ENST00000465637.5:n.179-5236C>A
ENST00000473665.1:n.640C>A
ENST00000482662.1:n.564C>A
NM_000821.5:c.1147C>A	NP_000812.2:p.Leu383Ile
NM_000821.6:c.1147C>A	NP_000812.2:p.Leu383Ile
NM_001142269.2:c.976C>A	NP_001135741.1:p.Leu326Ile
NM_001142269.3:c.976C>A	NP_001135741.1:p.Leu326Ile
XM_005264259.3:c.1147C>A	XP_005264316.1:p.Leu383Ile
XM_011532764.1:c.325C>A	XP_011531066.1:p.Leu109Ile
XM_011532765.1:c.325C>A	XP_011531067.1:p.Leu109Ile
XR_939677.1:n.1212C>A
XM_005264259.5:c.1147C>A	XP_005264316.1:p.Leu383Ile
XM_011532764.3:c.325C>A	XP_011531066.1:p.Leu109Ile
XM_011532765.3:c.325C>A	XP_011531067.1:p.Leu109Ile
XM_017003803.2:c.976C>A	XP_016859292.1:p.Leu326Ile
XR_001738703.2:n.1212C>A
NM_000821.7:c.1147C>A MANE Select	NP_000812.2:p.Leu383Ile
NM_001142269.4:c.976C>A	NP_001135741.1:p.Leu326Ile