Canonical Allele Identifier: CA347484921

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779025T>G (hg19) ; chr2:g.85551902T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551902T>G , CM000664.2:g.85551902T>G	GRCh38
NC_000002.11:g.85779025T>G , CM000664.1:g.85779025T>G	GRCh37
NC_000002.10:g.85632536T>G	NCBI36
NG_011811.2:g.14633A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5997A>C
ENST00000482662.2:n.4404A>C
ENST00000685865.1:n.2356A>C
ENST00000687250.1:n.2056A>C
ENST00000687995.1:n.1871A>C
ENST00000688205.1:c.*1112A>C	ENSP00000509673.1:n.*1112A>C
ENST00000688788.1:n.1758A>C
ENST00000689276.1:c.1450A>C	ENSP00000510012.1:p.Met484Leu
ENST00000689576.1:c.*138A>C	ENSP00000508712.1:n.*138A>C
ENST00000690108.1:c.*1175A>C	ENSP00000510617.1:n.*1175A>C
ENST00000690468.1:c.*71A>C	ENSP00000509078.1:n.*71A>C
ENST00000690595.1:c.844A>C	ENSP00000508979.1:p.Met282Leu
ENST00000691348.1:c.*71A>C	ENSP00000509369.1:n.*71A>C
ENST00000691410.1:c.*1096A>C	ENSP00000508479.1:n.*1096A>C
ENST00000693287.1:c.835A>C	ENSP00000510264.1:p.Met279Leu
ENST00000693681.1:c.832A>C	ENSP00000510789.1:p.Met278Leu
ENST00000233838.9:c.1519A>C MANE Select	ENSP00000233838.3:p.Met507Leu
ENST00000233838.8:c.1519A>C	ENSP00000233838.3:p.Met507Leu
ENST00000430215.7:c.1348A>C	ENSP00000408045.3:p.Met450Leu
ENST00000465637.5:n.179-3898A>C
NM_000821.5:c.1519A>C	NP_000812.2:p.Met507Leu
NM_000821.6:c.1519A>C	NP_000812.2:p.Met507Leu
NM_001142269.2:c.1348A>C	NP_001135741.1:p.Met450Leu
NM_001142269.3:c.1348A>C	NP_001135741.1:p.Met450Leu
XM_005264259.3:c.1519A>C	XP_005264316.1:p.Met507Leu
XM_011532764.1:c.697A>C	XP_011531066.1:p.Met233Leu
XM_011532765.1:c.697A>C	XP_011531067.1:p.Met233Leu
XR_939677.1:n.1432A>C
XM_005264259.5:c.1519A>C	XP_005264316.1:p.Met507Leu
XM_011532764.3:c.697A>C	XP_011531066.1:p.Met233Leu
XM_011532765.3:c.697A>C	XP_011531067.1:p.Met233Leu
XM_017003803.2:c.1348A>C	XP_016859292.1:p.Met450Leu
XR_001738703.2:n.1432A>C
NM_000821.7:c.1519A>C MANE Select	NP_000812.2:p.Met507Leu
NM_001142269.4:c.1348A>C	NP_001135741.1:p.Met450Leu