Canonical Allele Identifier: CA347484928

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779028A>T (hg19) ; chr2:g.85551905A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551905A>T , CM000664.2:g.85551905A>T	GRCh38
NC_000002.11:g.85779028A>T , CM000664.1:g.85779028A>T	GRCh37
NC_000002.10:g.85632539A>T	NCBI36
NG_011811.2:g.14630T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5994T>A
ENST00000482662.2:n.4401T>A
ENST00000685865.1:n.2353T>A
ENST00000687250.1:n.2053T>A
ENST00000687995.1:n.1868T>A
ENST00000688205.1:c.*1109T>A	ENSP00000509673.1:n.*1109T>A
ENST00000688788.1:n.1755T>A
ENST00000689276.1:c.1447T>A	ENSP00000510012.1:p.Leu483Met
ENST00000689576.1:c.*135T>A	ENSP00000508712.1:n.*135T>A
ENST00000690108.1:c.*1172T>A	ENSP00000510617.1:n.*1172T>A
ENST00000690468.1:c.*68T>A	ENSP00000509078.1:n.*68T>A
ENST00000690595.1:c.841T>A	ENSP00000508979.1:p.Leu281Met
ENST00000691348.1:c.*68T>A	ENSP00000509369.1:n.*68T>A
ENST00000691410.1:c.*1093T>A	ENSP00000508479.1:n.*1093T>A
ENST00000693287.1:c.832T>A	ENSP00000510264.1:p.Leu278Met
ENST00000693681.1:c.829T>A	ENSP00000510789.1:p.Leu277Met
ENST00000233838.9:c.1516T>A MANE Select	ENSP00000233838.3:p.Leu506Met
ENST00000233838.8:c.1516T>A	ENSP00000233838.3:p.Leu506Met
ENST00000430215.7:c.1345T>A	ENSP00000408045.3:p.Leu449Met
ENST00000465637.5:n.179-3901T>A
NM_000821.5:c.1516T>A	NP_000812.2:p.Leu506Met
NM_000821.6:c.1516T>A	NP_000812.2:p.Leu506Met
NM_001142269.2:c.1345T>A	NP_001135741.1:p.Leu449Met
NM_001142269.3:c.1345T>A	NP_001135741.1:p.Leu449Met
XM_005264259.3:c.1516T>A	XP_005264316.1:p.Leu506Met
XM_011532764.1:c.694T>A	XP_011531066.1:p.Leu232Met
XM_011532765.1:c.694T>A	XP_011531067.1:p.Leu232Met
XR_939677.1:n.1429T>A
XM_005264259.5:c.1516T>A	XP_005264316.1:p.Leu506Met
XM_011532764.3:c.694T>A	XP_011531066.1:p.Leu232Met
XM_011532765.3:c.694T>A	XP_011531067.1:p.Leu232Met
XM_017003803.2:c.1345T>A	XP_016859292.1:p.Leu449Met
XR_001738703.2:n.1429T>A
NM_000821.7:c.1516T>A MANE Select	NP_000812.2:p.Leu506Met
NM_001142269.4:c.1345T>A	NP_001135741.1:p.Leu449Met