Canonical Allele Identifier: CA347484842

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85778990T>A (hg19) ; chr2:g.85551867T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551867T>A , CM000664.2:g.85551867T>A	GRCh38
NC_000002.11:g.85778990T>A , CM000664.1:g.85778990T>A	GRCh37
NC_000002.10:g.85632501T>A	NCBI36
NG_011811.2:g.14668A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6032A>T
ENST00000482662.2:n.4439A>T
ENST00000685865.1:n.2391A>T
ENST00000687250.1:n.2091A>T
ENST00000687995.1:n.1906A>T
ENST00000688205.1:c.*1147A>T	ENSP00000509673.1:n.*1147A>T
ENST00000688788.1:n.1793A>T
ENST00000689276.1:c.1485A>T	ENSP00000510012.1:p.Glu495Asp
ENST00000689576.1:c.*173A>T	ENSP00000508712.1:n.*173A>T
ENST00000690108.1:c.*1210A>T	ENSP00000510617.1:n.*1210A>T
ENST00000690468.1:c.*106A>T	ENSP00000509078.1:n.*106A>T
ENST00000690595.1:c.879A>T	ENSP00000508979.1:p.Glu293Asp
ENST00000691348.1:c.*106A>T	ENSP00000509369.1:n.*106A>T
ENST00000691410.1:c.*1131A>T	ENSP00000508479.1:n.*1131A>T
ENST00000693287.1:c.870A>T	ENSP00000510264.1:p.Glu290Asp
ENST00000693681.1:c.867A>T	ENSP00000510789.1:p.Glu289Asp
ENST00000233838.9:c.1554A>T MANE Select	ENSP00000233838.3:p.Glu518Asp
ENST00000233838.8:c.1554A>T	ENSP00000233838.3:p.Glu518Asp
ENST00000430215.7:c.1383A>T	ENSP00000408045.3:p.Glu461Asp
ENST00000465637.5:n.179-3863A>T
NM_000821.5:c.1554A>T	NP_000812.2:p.Glu518Asp
NM_000821.6:c.1554A>T	NP_000812.2:p.Glu518Asp
NM_001142269.2:c.1383A>T	NP_001135741.1:p.Glu461Asp
NM_001142269.3:c.1383A>T	NP_001135741.1:p.Glu461Asp
XM_005264259.3:c.1554A>T	XP_005264316.1:p.Glu518Asp
XM_011532764.1:c.732A>T	XP_011531066.1:p.Glu244Asp
XM_011532765.1:c.732A>T	XP_011531067.1:p.Glu244Asp
XR_939677.1:n.1467A>T
XM_005264259.5:c.1554A>T	XP_005264316.1:p.Glu518Asp
XM_011532764.3:c.732A>T	XP_011531066.1:p.Glu244Asp
XM_011532765.3:c.732A>T	XP_011531067.1:p.Glu244Asp
XM_017003803.2:c.1383A>T	XP_016859292.1:p.Glu461Asp
XR_001738703.2:n.1467A>T
NM_000821.7:c.1554A>T MANE Select	NP_000812.2:p.Glu518Asp
NM_001142269.4:c.1383A>T	NP_001135741.1:p.Glu461Asp