Canonical Allele Identifier: CA347488095

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780519A>C (hg19) ; chr2:g.85553396A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553396A>C , CM000664.2:g.85553396A>C	GRCh38
NC_000002.11:g.85780519A>C , CM000664.1:g.85780519A>C	GRCh37
NC_000002.10:g.85634030A>C	NCBI36
NG_011811.2:g.13139T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5035T>G
ENST00000482662.2:n.3442T>G
ENST00000685865.1:n.1394T>G
ENST00000687250.1:n.1094T>G
ENST00000687995.1:n.1343T>G
ENST00000688205.1:c.*584T>G	ENSP00000509673.1:n.*584T>G
ENST00000688788.1:n.1230T>G
ENST00000689276.1:c.922T>G	ENSP00000510012.1:p.Leu308Val
ENST00000689576.1:c.991T>G	ENSP00000508712.1:p.Leu331Val
ENST00000690108.1:c.*647T>G	ENSP00000510617.1:n.*647T>G
ENST00000690468.1:c.712T>G	ENSP00000509078.1:p.Leu238Val
ENST00000690595.1:c.316T>G	ENSP00000508979.1:p.Leu106Val
ENST00000691348.1:c.820T>G	ENSP00000509369.1:p.Leu274Val
ENST00000691410.1:c.*568T>G	ENSP00000508479.1:n.*568T>G
ENST00000693287.1:c.307T>G	ENSP00000510264.1:p.Leu103Val
ENST00000693681.1:c.304T>G	ENSP00000510789.1:p.Leu102Val
ENST00000233838.9:c.991T>G MANE Select	ENSP00000233838.3:p.Leu331Val
ENST00000233838.8:c.991T>G	ENSP00000233838.3:p.Leu331Val
ENST00000430215.7:c.820T>G	ENSP00000408045.3:p.Leu274Val
ENST00000465637.5:n.179-5392T>G
ENST00000473665.1:n.484T>G
ENST00000482662.1:n.408T>G
NM_000821.5:c.991T>G	NP_000812.2:p.Leu331Val
NM_000821.6:c.991T>G	NP_000812.2:p.Leu331Val
NM_001142269.2:c.820T>G	NP_001135741.1:p.Leu274Val
NM_001142269.3:c.820T>G	NP_001135741.1:p.Leu274Val
XM_005264259.3:c.991T>G	XP_005264316.1:p.Leu331Val
XM_011532764.1:c.169T>G	XP_011531066.1:p.Leu57Val
XM_011532765.1:c.169T>G	XP_011531067.1:p.Leu57Val
XR_939677.1:n.1056T>G
XM_005264259.5:c.991T>G	XP_005264316.1:p.Leu331Val
XM_011532764.3:c.169T>G	XP_011531066.1:p.Leu57Val
XM_011532765.3:c.169T>G	XP_011531067.1:p.Leu57Val
XM_017003803.2:c.820T>G	XP_016859292.1:p.Leu274Val
XR_001738703.2:n.1056T>G
NM_000821.7:c.991T>G MANE Select	NP_000812.2:p.Leu331Val
NM_001142269.4:c.820T>G	NP_001135741.1:p.Leu274Val