Canonical Allele Identifier: CA347487348

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780374T>A (hg19) ; chr2:g.85553251T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553251T>A , CM000664.2:g.85553251T>A	GRCh38
NC_000002.11:g.85780374T>A , CM000664.1:g.85780374T>A	GRCh37
NC_000002.10:g.85633885T>A	NCBI36
NG_011811.2:g.13284A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5180A>T
ENST00000482662.2:n.3587A>T
ENST00000685865.1:n.1539A>T
ENST00000687250.1:n.1239A>T
ENST00000687995.1:n.1488A>T
ENST00000688205.1:c.*729A>T	ENSP00000509673.1:n.*729A>T
ENST00000688788.1:n.1375A>T
ENST00000689276.1:c.1067A>T	ENSP00000510012.1:p.Tyr356Phe
ENST00000689576.1:c.1136A>T	ENSP00000508712.1:p.Tyr379Phe
ENST00000690108.1:c.*792A>T	ENSP00000510617.1:n.*792A>T
ENST00000690468.1:c.857A>T	ENSP00000509078.1:p.Tyr286Phe
ENST00000690595.1:c.461A>T	ENSP00000508979.1:p.Tyr154Phe
ENST00000691348.1:c.965A>T	ENSP00000509369.1:p.Tyr322Phe
ENST00000691410.1:c.*713A>T	ENSP00000508479.1:n.*713A>T
ENST00000693287.1:c.452A>T	ENSP00000510264.1:p.Tyr151Phe
ENST00000693681.1:c.449A>T	ENSP00000510789.1:p.Tyr150Phe
ENST00000233838.9:c.1136A>T MANE Select	ENSP00000233838.3:p.Tyr379Phe
ENST00000233838.8:c.1136A>T	ENSP00000233838.3:p.Tyr379Phe
ENST00000430215.7:c.965A>T	ENSP00000408045.3:p.Tyr322Phe
ENST00000465637.5:n.179-5247A>T
ENST00000473665.1:n.629A>T
ENST00000482662.1:n.553A>T
NM_000821.5:c.1136A>T	NP_000812.2:p.Tyr379Phe
NM_000821.6:c.1136A>T	NP_000812.2:p.Tyr379Phe
NM_001142269.2:c.965A>T	NP_001135741.1:p.Tyr322Phe
NM_001142269.3:c.965A>T	NP_001135741.1:p.Tyr322Phe
XM_005264259.3:c.1136A>T	XP_005264316.1:p.Tyr379Phe
XM_011532764.1:c.314A>T	XP_011531066.1:p.Tyr105Phe
XM_011532765.1:c.314A>T	XP_011531067.1:p.Tyr105Phe
XR_939677.1:n.1201A>T
XM_005264259.5:c.1136A>T	XP_005264316.1:p.Tyr379Phe
XM_011532764.3:c.314A>T	XP_011531066.1:p.Tyr105Phe
XM_011532765.3:c.314A>T	XP_011531067.1:p.Tyr105Phe
XM_017003803.2:c.965A>T	XP_016859292.1:p.Tyr322Phe
XR_001738703.2:n.1201A>T
NM_000821.7:c.1136A>T MANE Select	NP_000812.2:p.Tyr379Phe
NM_001142269.4:c.965A>T	NP_001135741.1:p.Tyr322Phe