Canonical Allele Identifier: CA347484763

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85778956C>G (hg19) ; chr2:g.85551833C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551833C>G , CM000664.2:g.85551833C>G	GRCh38
NC_000002.11:g.85778956C>G , CM000664.1:g.85778956C>G	GRCh37
NC_000002.10:g.85632467C>G	NCBI36
NG_011811.2:g.14702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6066G>C
ENST00000482662.2:n.4473G>C
ENST00000685865.1:n.2425G>C
ENST00000687250.1:n.2125G>C
ENST00000687995.1:n.1940G>C
ENST00000688205.1:c.*1181G>C	ENSP00000509673.1:n.*1181G>C
ENST00000688788.1:n.1827G>C
ENST00000689276.1:c.1519G>C	ENSP00000510012.1:p.Val507Leu
ENST00000689576.1:c.*207G>C	ENSP00000508712.1:n.*207G>C
ENST00000690108.1:c.*1244G>C	ENSP00000510617.1:n.*1244G>C
ENST00000690468.1:c.*140G>C	ENSP00000509078.1:n.*140G>C
ENST00000690595.1:c.913G>C	ENSP00000508979.1:p.Val305Leu
ENST00000691348.1:c.*140G>C	ENSP00000509369.1:n.*140G>C
ENST00000691410.1:c.*1165G>C	ENSP00000508479.1:n.*1165G>C
ENST00000693287.1:c.904G>C	ENSP00000510264.1:p.Val302Leu
ENST00000693681.1:c.901G>C	ENSP00000510789.1:p.Val301Leu
ENST00000233838.9:c.1588G>C MANE Select	ENSP00000233838.3:p.Val530Leu
ENST00000233838.8:c.1588G>C	ENSP00000233838.3:p.Val530Leu
ENST00000430215.7:c.1417G>C	ENSP00000408045.3:p.Val473Leu
ENST00000465637.5:n.179-3829G>C
NM_000821.5:c.1588G>C	NP_000812.2:p.Val530Leu
NM_000821.6:c.1588G>C	NP_000812.2:p.Val530Leu
NM_001142269.2:c.1417G>C	NP_001135741.1:p.Val473Leu
NM_001142269.3:c.1417G>C	NP_001135741.1:p.Val473Leu
XM_005264259.3:c.1588G>C	XP_005264316.1:p.Val530Leu
XM_011532764.1:c.766G>C	XP_011531066.1:p.Val256Leu
XM_011532765.1:c.766G>C	XP_011531067.1:p.Val256Leu
XR_939677.1:n.1501G>C
XM_005264259.5:c.1588G>C	XP_005264316.1:p.Val530Leu
XM_011532764.3:c.766G>C	XP_011531066.1:p.Val256Leu
XM_011532765.3:c.766G>C	XP_011531067.1:p.Val256Leu
XM_017003803.2:c.1417G>C	XP_016859292.1:p.Val473Leu
XR_001738703.2:n.1501G>C
NM_000821.7:c.1588G>C MANE Select	NP_000812.2:p.Val530Leu
NM_001142269.4:c.1417G>C	NP_001135741.1:p.Val473Leu