Canonical Allele Identifier: CA427440056

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85778998A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551875A>G , CM000664.2:g.85551875A>G	GRCh38
NC_000002.11:g.85778998A>G , CM000664.1:g.85778998A>G	GRCh37
NC_000002.10:g.85632509A>G	NCBI36
NG_011811.2:g.14660T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6024T>C
ENST00000482662.2:n.4431T>C
ENST00000685865.1:n.2383T>C
ENST00000687250.1:n.2083T>C
ENST00000687995.1:n.1898T>C
ENST00000688205.1:c.*1139T>C	ENSP00000509673.1:n.*1139T>C
ENST00000688788.1:n.1785T>C
ENST00000689276.1:c.1477T>C	ENSP00000510012.1:p.Leu493=
ENST00000689576.1:c.*165T>C	ENSP00000508712.1:n.*165T>C
ENST00000690108.1:c.*1202T>C	ENSP00000510617.1:n.*1202T>C
ENST00000690468.1:c.*98T>C	ENSP00000509078.1:n.*98T>C
ENST00000690595.1:c.871T>C	ENSP00000508979.1:p.Leu291=
ENST00000691348.1:c.*98T>C	ENSP00000509369.1:n.*98T>C
ENST00000691410.1:c.*1123T>C	ENSP00000508479.1:n.*1123T>C
ENST00000693287.1:c.862T>C	ENSP00000510264.1:p.Leu288=
ENST00000693681.1:c.859T>C	ENSP00000510789.1:p.Leu287=
ENST00000233838.9:c.1546T>C MANE Select	ENSP00000233838.3:p.Leu516=
ENST00000233838.8:c.1546T>C	ENSP00000233838.3:p.Leu516=
ENST00000430215.7:c.1375T>C	ENSP00000408045.3:p.Leu459=
ENST00000465637.5:n.179-3871T>C
NM_000821.5:c.1546T>C	NP_000812.2:p.Leu516=
NM_000821.6:c.1546T>C	NP_000812.2:p.Leu516=
NM_001142269.2:c.1375T>C	NP_001135741.1:p.Leu459=
NM_001142269.3:c.1375T>C	NP_001135741.1:p.Leu459=
XM_005264259.3:c.1546T>C	XP_005264316.1:p.Leu516=
XM_011532764.1:c.724T>C	XP_011531066.1:p.Leu242=
XM_011532765.1:c.724T>C	XP_011531067.1:p.Leu242=
XR_939677.1:n.1459T>C
XM_005264259.5:c.1546T>C	XP_005264316.1:p.Leu516=
XM_011532764.3:c.724T>C	XP_011531066.1:p.Leu242=
XM_011532765.3:c.724T>C	XP_011531067.1:p.Leu242=
XM_017003803.2:c.1375T>C	XP_016859292.1:p.Leu459=
XR_001738703.2:n.1459T>C
NM_000821.7:c.1546T>C MANE Select	NP_000812.2:p.Leu516=
NM_001142269.4:c.1375T>C	NP_001135741.1:p.Leu459=