Canonical Allele Identifier: CA427440035

Gene: GGCX

Linked Data

• COSMIC: COSM5435063
• MyVariant Identifiers: chr2:g.85778977G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551854G>A , CM000664.2:g.85551854G>A	GRCh38
NC_000002.11:g.85778977G>A , CM000664.1:g.85778977G>A	GRCh37
NC_000002.10:g.85632488G>A	NCBI36
NG_011811.2:g.14681C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.6045C>T
ENST00000482662.2:n.4452C>T
ENST00000685865.1:n.2404C>T
ENST00000687250.1:n.2104C>T
ENST00000687995.1:n.1919C>T
ENST00000688205.1:c.*1160C>T	ENSP00000509673.1:n.*1160C>T
ENST00000688788.1:n.1806C>T
ENST00000689276.1:c.1498C>T	ENSP00000510012.1:p.Leu500=
ENST00000689576.1:c.*186C>T	ENSP00000508712.1:n.*186C>T
ENST00000690108.1:c.*1223C>T	ENSP00000510617.1:n.*1223C>T
ENST00000690468.1:c.*119C>T	ENSP00000509078.1:n.*119C>T
ENST00000690595.1:c.892C>T	ENSP00000508979.1:p.Leu298=
ENST00000691348.1:c.*119C>T	ENSP00000509369.1:n.*119C>T
ENST00000691410.1:c.*1144C>T	ENSP00000508479.1:n.*1144C>T
ENST00000693287.1:c.883C>T	ENSP00000510264.1:p.Leu295=
ENST00000693681.1:c.880C>T	ENSP00000510789.1:p.Leu294=
ENST00000233838.9:c.1567C>T MANE Select	ENSP00000233838.3:p.Leu523=
ENST00000233838.8:c.1567C>T	ENSP00000233838.3:p.Leu523=
ENST00000430215.7:c.1396C>T	ENSP00000408045.3:p.Leu466=
ENST00000465637.5:n.179-3850C>T
NM_000821.5:c.1567C>T	NP_000812.2:p.Leu523=
NM_000821.6:c.1567C>T	NP_000812.2:p.Leu523=
NM_001142269.2:c.1396C>T	NP_001135741.1:p.Leu466=
NM_001142269.3:c.1396C>T	NP_001135741.1:p.Leu466=
XM_005264259.3:c.1567C>T	XP_005264316.1:p.Leu523=
XM_011532764.1:c.745C>T	XP_011531066.1:p.Leu249=
XM_011532765.1:c.745C>T	XP_011531067.1:p.Leu249=
XR_939677.1:n.1480C>T
XM_005264259.5:c.1567C>T	XP_005264316.1:p.Leu523=
XM_011532764.3:c.745C>T	XP_011531066.1:p.Leu249=
XM_011532765.3:c.745C>T	XP_011531067.1:p.Leu249=
XM_017003803.2:c.1396C>T	XP_016859292.1:p.Leu466=
XR_001738703.2:n.1480C>T
NM_000821.7:c.1567C>T MANE Select	NP_000812.2:p.Leu523=
NM_001142269.4:c.1396C>T	NP_001135741.1:p.Leu466=