Canonical Allele Identifier: CA347487122

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780168A>G (hg19) ; chr2:g.85553045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553045A>G , CM000664.2:g.85553045A>G	GRCh38
NC_000002.11:g.85780168A>G , CM000664.1:g.85780168A>G	GRCh37
NC_000002.10:g.85633679A>G	NCBI36
NG_011811.2:g.13490T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5225T>C
ENST00000482662.2:n.3632T>C
ENST00000685865.1:n.1584T>C
ENST00000687250.1:n.1284T>C
ENST00000687995.1:n.1533T>C
ENST00000688205.1:c.*774T>C	ENSP00000509673.1:n.*774T>C
ENST00000688788.1:n.1420T>C
ENST00000689276.1:c.1112T>C	ENSP00000510012.1:p.Leu371Pro
ENST00000689576.1:c.1181T>C	ENSP00000508712.1:p.Leu394Pro
ENST00000690108.1:c.*837T>C	ENSP00000510617.1:n.*837T>C
ENST00000690468.1:c.902T>C	ENSP00000509078.1:p.Leu301Pro
ENST00000690595.1:c.506T>C	ENSP00000508979.1:p.Leu169Pro
ENST00000691348.1:c.1010T>C	ENSP00000509369.1:p.Leu337Pro
ENST00000691410.1:c.*758T>C	ENSP00000508479.1:n.*758T>C
ENST00000693287.1:c.497T>C	ENSP00000510264.1:p.Leu166Pro
ENST00000693681.1:c.494T>C	ENSP00000510789.1:p.Leu165Pro
ENST00000233838.9:c.1181T>C MANE Select	ENSP00000233838.3:p.Leu394Pro
ENST00000233838.8:c.1181T>C	ENSP00000233838.3:p.Leu394Pro
ENST00000430215.7:c.1010T>C	ENSP00000408045.3:p.Leu337Pro
ENST00000465637.5:n.179-5041T>C
ENST00000473665.1:n.674T>C
ENST00000482662.1:n.598T>C
NM_000821.5:c.1181T>C	NP_000812.2:p.Leu394Pro
NM_000821.6:c.1181T>C	NP_000812.2:p.Leu394Pro
NM_001142269.2:c.1010T>C	NP_001135741.1:p.Leu337Pro
NM_001142269.3:c.1010T>C	NP_001135741.1:p.Leu337Pro
XM_005264259.3:c.1181T>C	XP_005264316.1:p.Leu394Pro
XM_011532764.1:c.359T>C	XP_011531066.1:p.Leu120Pro
XM_011532765.1:c.359T>C	XP_011531067.1:p.Leu120Pro
XR_939677.1:n.1246T>C
XM_005264259.5:c.1181T>C	XP_005264316.1:p.Leu394Pro
XM_011532764.3:c.359T>C	XP_011531066.1:p.Leu120Pro
XM_011532765.3:c.359T>C	XP_011531067.1:p.Leu120Pro
XM_017003803.2:c.1010T>C	XP_016859292.1:p.Leu337Pro
XR_001738703.2:n.1246T>C
NM_000821.7:c.1181T>C MANE Select	NP_000812.2:p.Leu394Pro
NM_001142269.4:c.1010T>C	NP_001135741.1:p.Leu337Pro