Canonical Allele Identifier: CA347487385

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780384A>C (hg19) ; chr2:g.85553261A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553261A>C , CM000664.2:g.85553261A>C	GRCh38
NC_000002.11:g.85780384A>C , CM000664.1:g.85780384A>C	GRCh37
NC_000002.10:g.85633895A>C	NCBI36
NG_011811.2:g.13274T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5170T>G
ENST00000482662.2:n.3577T>G
ENST00000685865.1:n.1529T>G
ENST00000687250.1:n.1229T>G
ENST00000687995.1:n.1478T>G
ENST00000688205.1:c.*719T>G	ENSP00000509673.1:n.*719T>G
ENST00000688788.1:n.1365T>G
ENST00000689276.1:c.1057T>G	ENSP00000510012.1:p.Phe353Val
ENST00000689576.1:c.1126T>G	ENSP00000508712.1:p.Phe376Val
ENST00000690108.1:c.*782T>G	ENSP00000510617.1:n.*782T>G
ENST00000690468.1:c.847T>G	ENSP00000509078.1:p.Phe283Val
ENST00000690595.1:c.451T>G	ENSP00000508979.1:p.Phe151Val
ENST00000691348.1:c.955T>G	ENSP00000509369.1:p.Phe319Val
ENST00000691410.1:c.*703T>G	ENSP00000508479.1:n.*703T>G
ENST00000693287.1:c.442T>G	ENSP00000510264.1:p.Phe148Val
ENST00000693681.1:c.439T>G	ENSP00000510789.1:p.Phe147Val
ENST00000233838.9:c.1126T>G MANE Select	ENSP00000233838.3:p.Phe376Val
ENST00000233838.8:c.1126T>G	ENSP00000233838.3:p.Phe376Val
ENST00000430215.7:c.955T>G	ENSP00000408045.3:p.Phe319Val
ENST00000465637.5:n.179-5257T>G
ENST00000473665.1:n.619T>G
ENST00000482662.1:n.543T>G
NM_000821.5:c.1126T>G	NP_000812.2:p.Phe376Val
NM_000821.6:c.1126T>G	NP_000812.2:p.Phe376Val
NM_001142269.2:c.955T>G	NP_001135741.1:p.Phe319Val
NM_001142269.3:c.955T>G	NP_001135741.1:p.Phe319Val
XM_005264259.3:c.1126T>G	XP_005264316.1:p.Phe376Val
XM_011532764.1:c.304T>G	XP_011531066.1:p.Phe102Val
XM_011532765.1:c.304T>G	XP_011531067.1:p.Phe102Val
XR_939677.1:n.1191T>G
XM_005264259.5:c.1126T>G	XP_005264316.1:p.Phe376Val
XM_011532764.3:c.304T>G	XP_011531066.1:p.Phe102Val
XM_011532765.3:c.304T>G	XP_011531067.1:p.Phe102Val
XM_017003803.2:c.955T>G	XP_016859292.1:p.Phe319Val
XR_001738703.2:n.1191T>G
NM_000821.7:c.1126T>G MANE Select	NP_000812.2:p.Phe376Val
NM_001142269.4:c.955T>G	NP_001135741.1:p.Phe319Val