Canonical Allele Identifier: CA347485078

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779100A>G (hg19) ; chr2:g.85551977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551977A>G , CM000664.2:g.85551977A>G	GRCh38
NC_000002.11:g.85779100A>G , CM000664.1:g.85779100A>G	GRCh37
NC_000002.10:g.85632611A>G	NCBI36
NG_011811.2:g.14558T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5922T>C
ENST00000482662.2:n.4329T>C
ENST00000685865.1:n.2281T>C
ENST00000687250.1:n.1981T>C
ENST00000687995.1:n.1796T>C
ENST00000688205.1:c.*1037T>C	ENSP00000509673.1:n.*1037T>C
ENST00000688788.1:n.1683T>C
ENST00000689276.1:c.1375T>C	ENSP00000510012.1:p.Phe459Leu
ENST00000689576.1:c.*63T>C	ENSP00000508712.1:n.*63T>C
ENST00000690108.1:c.*1100T>C	ENSP00000510617.1:n.*1100T>C
ENST00000690468.1:c.1013T>C	ENSP00000509078.1:p.Phe338Ser
ENST00000690595.1:c.769T>C	ENSP00000508979.1:p.Phe257Leu
ENST00000691348.1:c.1121T>C	ENSP00000509369.1:p.Phe374Ser
ENST00000691410.1:c.*1021T>C	ENSP00000508479.1:n.*1021T>C
ENST00000693287.1:c.760T>C	ENSP00000510264.1:p.Phe254Leu
ENST00000693681.1:c.757T>C	ENSP00000510789.1:p.Phe253Leu
ENST00000233838.9:c.1444T>C MANE Select	ENSP00000233838.3:p.Phe482Leu
ENST00000233838.8:c.1444T>C	ENSP00000233838.3:p.Phe482Leu
ENST00000430215.7:c.1273T>C	ENSP00000408045.3:p.Phe425Leu
ENST00000465637.5:n.179-3973T>C
NM_000821.5:c.1444T>C	NP_000812.2:p.Phe482Leu
NM_000821.6:c.1444T>C	NP_000812.2:p.Phe482Leu
NM_001142269.2:c.1273T>C	NP_001135741.1:p.Phe425Leu
NM_001142269.3:c.1273T>C	NP_001135741.1:p.Phe425Leu
XM_005264259.3:c.1444T>C	XP_005264316.1:p.Phe482Leu
XM_011532764.1:c.622T>C	XP_011531066.1:p.Phe208Leu
XM_011532765.1:c.622T>C	XP_011531067.1:p.Phe208Leu
XR_939677.1:n.1357T>C
XM_005264259.5:c.1444T>C	XP_005264316.1:p.Phe482Leu
XM_011532764.3:c.622T>C	XP_011531066.1:p.Phe208Leu
XM_011532765.3:c.622T>C	XP_011531067.1:p.Phe208Leu
XM_017003803.2:c.1273T>C	XP_016859292.1:p.Phe425Leu
XR_001738703.2:n.1357T>C
NM_000821.7:c.1444T>C MANE Select	NP_000812.2:p.Phe482Leu
NM_001142269.4:c.1273T>C	NP_001135741.1:p.Phe425Leu