Canonical Allele Identifier: CA347487125

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780169G>C (hg19) ; chr2:g.85553046G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553046G>C , CM000664.2:g.85553046G>C	GRCh38
NC_000002.11:g.85780169G>C , CM000664.1:g.85780169G>C	GRCh37
NC_000002.10:g.85633680G>C	NCBI36
NG_011811.2:g.13489C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5224C>G
ENST00000482662.2:n.3631C>G
ENST00000685865.1:n.1583C>G
ENST00000687250.1:n.1283C>G
ENST00000687995.1:n.1532C>G
ENST00000688205.1:c.*773C>G	ENSP00000509673.1:n.*773C>G
ENST00000688788.1:n.1419C>G
ENST00000689276.1:c.1111C>G	ENSP00000510012.1:p.Leu371Val
ENST00000689576.1:c.1180C>G	ENSP00000508712.1:p.Leu394Val
ENST00000690108.1:c.*836C>G	ENSP00000510617.1:n.*836C>G
ENST00000690468.1:c.901C>G	ENSP00000509078.1:p.Leu301Val
ENST00000690595.1:c.505C>G	ENSP00000508979.1:p.Leu169Val
ENST00000691348.1:c.1009C>G	ENSP00000509369.1:p.Leu337Val
ENST00000691410.1:c.*757C>G	ENSP00000508479.1:n.*757C>G
ENST00000693287.1:c.496C>G	ENSP00000510264.1:p.Leu166Val
ENST00000693681.1:c.493C>G	ENSP00000510789.1:p.Leu165Val
ENST00000233838.9:c.1180C>G MANE Select	ENSP00000233838.3:p.Leu394Val
ENST00000233838.8:c.1180C>G	ENSP00000233838.3:p.Leu394Val
ENST00000430215.7:c.1009C>G	ENSP00000408045.3:p.Leu337Val
ENST00000465637.5:n.179-5042C>G
ENST00000473665.1:n.673C>G
ENST00000482662.1:n.597C>G
NM_000821.5:c.1180C>G	NP_000812.2:p.Leu394Val
NM_000821.6:c.1180C>G	NP_000812.2:p.Leu394Val
NM_001142269.2:c.1009C>G	NP_001135741.1:p.Leu337Val
NM_001142269.3:c.1009C>G	NP_001135741.1:p.Leu337Val
XM_005264259.3:c.1180C>G	XP_005264316.1:p.Leu394Val
XM_011532764.1:c.358C>G	XP_011531066.1:p.Leu120Val
XM_011532765.1:c.358C>G	XP_011531067.1:p.Leu120Val
XR_939677.1:n.1245C>G
XM_005264259.5:c.1180C>G	XP_005264316.1:p.Leu394Val
XM_011532764.3:c.358C>G	XP_011531066.1:p.Leu120Val
XM_011532765.3:c.358C>G	XP_011531067.1:p.Leu120Val
XM_017003803.2:c.1009C>G	XP_016859292.1:p.Leu337Val
XR_001738703.2:n.1245C>G
NM_000821.7:c.1180C>G MANE Select	NP_000812.2:p.Leu394Val
NM_001142269.4:c.1009C>G	NP_001135741.1:p.Leu337Val