Canonical Allele Identifier: CA347484743

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85778947C>A (hg19) ; chr2:g.85551824C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551824C>A , CM000664.2:g.85551824C>A	GRCh38
NC_000002.11:g.85778947C>A , CM000664.1:g.85778947C>A	GRCh37
NC_000002.10:g.85632458C>A	NCBI36
NG_011811.2:g.14711G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6075G>T
ENST00000482662.2:n.4482G>T
ENST00000685865.1:n.2434G>T
ENST00000687250.1:n.2134G>T
ENST00000687995.1:n.1949G>T
ENST00000688205.1:c.*1190G>T	ENSP00000509673.1:n.*1190G>T
ENST00000688788.1:n.1836G>T
ENST00000689276.1:c.1528G>T	ENSP00000510012.1:p.Ala510Ser
ENST00000689576.1:c.*216G>T	ENSP00000508712.1:n.*216G>T
ENST00000690108.1:c.*1253G>T	ENSP00000510617.1:n.*1253G>T
ENST00000690468.1:c.*149G>T	ENSP00000509078.1:n.*149G>T
ENST00000690595.1:c.922G>T	ENSP00000508979.1:p.Ala308Ser
ENST00000691348.1:c.*149G>T	ENSP00000509369.1:n.*149G>T
ENST00000691410.1:c.*1174G>T	ENSP00000508479.1:n.*1174G>T
ENST00000693287.1:c.913G>T	ENSP00000510264.1:p.Ala305Ser
ENST00000693681.1:c.910G>T	ENSP00000510789.1:p.Ala304Ser
ENST00000233838.9:c.1597G>T MANE Select	ENSP00000233838.3:p.Ala533Ser
ENST00000233838.8:c.1597G>T	ENSP00000233838.3:p.Ala533Ser
ENST00000430215.7:c.1426G>T	ENSP00000408045.3:p.Ala476Ser
ENST00000465637.5:n.179-3820G>T
NM_000821.5:c.1597G>T	NP_000812.2:p.Ala533Ser
NM_000821.6:c.1597G>T	NP_000812.2:p.Ala533Ser
NM_001142269.2:c.1426G>T	NP_001135741.1:p.Ala476Ser
NM_001142269.3:c.1426G>T	NP_001135741.1:p.Ala476Ser
XM_005264259.3:c.1597G>T	XP_005264316.1:p.Ala533Ser
XM_011532764.1:c.775G>T	XP_011531066.1:p.Ala259Ser
XM_011532765.1:c.775G>T	XP_011531067.1:p.Ala259Ser
XR_939677.1:n.1510G>T
XM_005264259.5:c.1597G>T	XP_005264316.1:p.Ala533Ser
XM_011532764.3:c.775G>T	XP_011531066.1:p.Ala259Ser
XM_011532765.3:c.775G>T	XP_011531067.1:p.Ala259Ser
XM_017003803.2:c.1426G>T	XP_016859292.1:p.Ala476Ser
XR_001738703.2:n.1510G>T
NM_000821.7:c.1597G>T MANE Select	NP_000812.2:p.Ala533Ser
NM_001142269.4:c.1426G>T	NP_001135741.1:p.Ala476Ser