Canonical Allele Identifier: CA347487304

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780364A>C (hg19) ; chr2:g.85553241A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553241A>C , CM000664.2:g.85553241A>C	GRCh38
NC_000002.11:g.85780364A>C , CM000664.1:g.85780364A>C	GRCh37
NC_000002.10:g.85633875A>C	NCBI36
NG_011811.2:g.13294T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5190T>G
ENST00000482662.2:n.3597T>G
ENST00000685865.1:n.1549T>G
ENST00000687250.1:n.1249T>G
ENST00000687995.1:n.1498T>G
ENST00000688205.1:c.*739T>G	ENSP00000509673.1:n.*739T>G
ENST00000688788.1:n.1385T>G
ENST00000689276.1:c.1077T>G	ENSP00000510012.1:p.Phe359Leu
ENST00000689576.1:c.1146T>G	ENSP00000508712.1:p.Phe382Leu
ENST00000690108.1:c.*802T>G	ENSP00000510617.1:n.*802T>G
ENST00000690468.1:c.867T>G	ENSP00000509078.1:p.Phe289Leu
ENST00000690595.1:c.471T>G	ENSP00000508979.1:p.Phe157Leu
ENST00000691348.1:c.975T>G	ENSP00000509369.1:p.Phe325Leu
ENST00000691410.1:c.*723T>G	ENSP00000508479.1:n.*723T>G
ENST00000693287.1:c.462T>G	ENSP00000510264.1:p.Phe154Leu
ENST00000693681.1:c.459T>G	ENSP00000510789.1:p.Phe153Leu
ENST00000233838.9:c.1146T>G MANE Select	ENSP00000233838.3:p.Phe382Leu
ENST00000233838.8:c.1146T>G	ENSP00000233838.3:p.Phe382Leu
ENST00000430215.7:c.975T>G	ENSP00000408045.3:p.Phe325Leu
ENST00000465637.5:n.179-5237T>G
ENST00000473665.1:n.639T>G
ENST00000482662.1:n.563T>G
NM_000821.5:c.1146T>G	NP_000812.2:p.Phe382Leu
NM_000821.6:c.1146T>G	NP_000812.2:p.Phe382Leu
NM_001142269.2:c.975T>G	NP_001135741.1:p.Phe325Leu
NM_001142269.3:c.975T>G	NP_001135741.1:p.Phe325Leu
XM_005264259.3:c.1146T>G	XP_005264316.1:p.Phe382Leu
XM_011532764.1:c.324T>G	XP_011531066.1:p.Phe108Leu
XM_011532765.1:c.324T>G	XP_011531067.1:p.Phe108Leu
XR_939677.1:n.1211T>G
XM_005264259.5:c.1146T>G	XP_005264316.1:p.Phe382Leu
XM_011532764.3:c.324T>G	XP_011531066.1:p.Phe108Leu
XM_011532765.3:c.324T>G	XP_011531067.1:p.Phe108Leu
XM_017003803.2:c.975T>G	XP_016859292.1:p.Phe325Leu
XR_001738703.2:n.1211T>G
NM_000821.7:c.1146T>G MANE Select	NP_000812.2:p.Phe382Leu
NM_001142269.4:c.975T>G	NP_001135741.1:p.Phe325Leu