Canonical Allele Identifier: CA347484903

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779018A>T (hg19) ; chr2:g.85551895A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551895A>T , CM000664.2:g.85551895A>T	GRCh38
NC_000002.11:g.85779018A>T , CM000664.1:g.85779018A>T	GRCh37
NC_000002.10:g.85632529A>T	NCBI36
NG_011811.2:g.14640T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6004T>A
ENST00000482662.2:n.4411T>A
ENST00000685865.1:n.2363T>A
ENST00000687250.1:n.2063T>A
ENST00000687995.1:n.1878T>A
ENST00000688205.1:c.*1119T>A	ENSP00000509673.1:n.*1119T>A
ENST00000688788.1:n.1765T>A
ENST00000689276.1:c.1457T>A	ENSP00000510012.1:p.Leu486Gln
ENST00000689576.1:c.*145T>A	ENSP00000508712.1:n.*145T>A
ENST00000690108.1:c.*1182T>A	ENSP00000510617.1:n.*1182T>A
ENST00000690468.1:c.*78T>A	ENSP00000509078.1:n.*78T>A
ENST00000690595.1:c.851T>A	ENSP00000508979.1:p.Leu284Gln
ENST00000691348.1:c.*78T>A	ENSP00000509369.1:n.*78T>A
ENST00000691410.1:c.*1103T>A	ENSP00000508479.1:n.*1103T>A
ENST00000693287.1:c.842T>A	ENSP00000510264.1:p.Leu281Gln
ENST00000693681.1:c.839T>A	ENSP00000510789.1:p.Leu280Gln
ENST00000233838.9:c.1526T>A MANE Select	ENSP00000233838.3:p.Leu509Gln
ENST00000233838.8:c.1526T>A	ENSP00000233838.3:p.Leu509Gln
ENST00000430215.7:c.1355T>A	ENSP00000408045.3:p.Leu452Gln
ENST00000465637.5:n.179-3891T>A
NM_000821.5:c.1526T>A	NP_000812.2:p.Leu509Gln
NM_000821.6:c.1526T>A	NP_000812.2:p.Leu509Gln
NM_001142269.2:c.1355T>A	NP_001135741.1:p.Leu452Gln
NM_001142269.3:c.1355T>A	NP_001135741.1:p.Leu452Gln
XM_005264259.3:c.1526T>A	XP_005264316.1:p.Leu509Gln
XM_011532764.1:c.704T>A	XP_011531066.1:p.Leu235Gln
XM_011532765.1:c.704T>A	XP_011531067.1:p.Leu235Gln
XR_939677.1:n.1439T>A
XM_005264259.5:c.1526T>A	XP_005264316.1:p.Leu509Gln
XM_011532764.3:c.704T>A	XP_011531066.1:p.Leu235Gln
XM_011532765.3:c.704T>A	XP_011531067.1:p.Leu235Gln
XM_017003803.2:c.1355T>A	XP_016859292.1:p.Leu452Gln
XR_001738703.2:n.1439T>A
NM_000821.7:c.1526T>A MANE Select	NP_000812.2:p.Leu509Gln
NM_001142269.4:c.1355T>A	NP_001135741.1:p.Leu452Gln