Canonical Allele Identifier: CA347488109

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780521A>T (hg19) ; chr2:g.85553398A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553398A>T , CM000664.2:g.85553398A>T	GRCh38
NC_000002.11:g.85780521A>T , CM000664.1:g.85780521A>T	GRCh37
NC_000002.10:g.85634032A>T	NCBI36
NG_011811.2:g.13137T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5033T>A
ENST00000482662.2:n.3440T>A
ENST00000685865.1:n.1392T>A
ENST00000687250.1:n.1092T>A
ENST00000687995.1:n.1341T>A
ENST00000688205.1:c.*582T>A	ENSP00000509673.1:n.*582T>A
ENST00000688788.1:n.1228T>A
ENST00000689276.1:c.920T>A	ENSP00000510012.1:p.Leu307Gln
ENST00000689576.1:c.989T>A	ENSP00000508712.1:p.Leu330Gln
ENST00000690108.1:c.*645T>A	ENSP00000510617.1:n.*645T>A
ENST00000690468.1:c.710T>A	ENSP00000509078.1:p.Leu237Gln
ENST00000690595.1:c.314T>A	ENSP00000508979.1:p.Leu105Gln
ENST00000691348.1:c.818T>A	ENSP00000509369.1:p.Leu273Gln
ENST00000691410.1:c.*566T>A	ENSP00000508479.1:n.*566T>A
ENST00000693287.1:c.305T>A	ENSP00000510264.1:p.Leu102Gln
ENST00000693681.1:c.302T>A	ENSP00000510789.1:p.Leu101Gln
ENST00000233838.9:c.989T>A MANE Select	ENSP00000233838.3:p.Leu330Gln
ENST00000233838.8:c.989T>A	ENSP00000233838.3:p.Leu330Gln
ENST00000430215.7:c.818T>A	ENSP00000408045.3:p.Leu273Gln
ENST00000465637.5:n.179-5394T>A
ENST00000473665.1:n.482T>A
ENST00000482662.1:n.406T>A
NM_000821.5:c.989T>A	NP_000812.2:p.Leu330Gln
NM_000821.6:c.989T>A	NP_000812.2:p.Leu330Gln
NM_001142269.2:c.818T>A	NP_001135741.1:p.Leu273Gln
NM_001142269.3:c.818T>A	NP_001135741.1:p.Leu273Gln
XM_005264259.3:c.989T>A	XP_005264316.1:p.Leu330Gln
XM_011532764.1:c.167T>A	XP_011531066.1:p.Leu56Gln
XM_011532765.1:c.167T>A	XP_011531067.1:p.Leu56Gln
XR_939677.1:n.1054T>A
XM_005264259.5:c.989T>A	XP_005264316.1:p.Leu330Gln
XM_011532764.3:c.167T>A	XP_011531066.1:p.Leu56Gln
XM_011532765.3:c.167T>A	XP_011531067.1:p.Leu56Gln
XM_017003803.2:c.818T>A	XP_016859292.1:p.Leu273Gln
XR_001738703.2:n.1054T>A
NM_000821.7:c.989T>A MANE Select	NP_000812.2:p.Leu330Gln
NM_001142269.4:c.818T>A	NP_001135741.1:p.Leu273Gln