Canonical Allele Identifier: CA347485040

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779082T>A (hg19) ; chr2:g.85551959T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551959T>A , CM000664.2:g.85551959T>A	GRCh38
NC_000002.11:g.85779082T>A , CM000664.1:g.85779082T>A	GRCh37
NC_000002.10:g.85632593T>A	NCBI36
NG_011811.2:g.14576A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5940A>T
ENST00000482662.2:n.4347A>T
ENST00000685865.1:n.2299A>T
ENST00000687250.1:n.1999A>T
ENST00000687995.1:n.1814A>T
ENST00000688205.1:c.*1055A>T	ENSP00000509673.1:n.*1055A>T
ENST00000688788.1:n.1701A>T
ENST00000689276.1:c.1393A>T	ENSP00000510012.1:p.Ile465Phe
ENST00000689576.1:c.*81A>T	ENSP00000508712.1:n.*81A>T
ENST00000690108.1:c.*1118A>T	ENSP00000510617.1:n.*1118A>T
ENST00000690468.1:c.*14A>T	ENSP00000509078.1:n.*14A>T
ENST00000690595.1:c.787A>T	ENSP00000508979.1:p.Ile263Phe
ENST00000691348.1:c.*14A>T	ENSP00000509369.1:n.*14A>T
ENST00000691410.1:c.*1039A>T	ENSP00000508479.1:n.*1039A>T
ENST00000693287.1:c.778A>T	ENSP00000510264.1:p.Ile260Phe
ENST00000693681.1:c.775A>T	ENSP00000510789.1:p.Ile259Phe
ENST00000233838.9:c.1462A>T MANE Select	ENSP00000233838.3:p.Ile488Phe
ENST00000233838.8:c.1462A>T	ENSP00000233838.3:p.Ile488Phe
ENST00000430215.7:c.1291A>T	ENSP00000408045.3:p.Ile431Phe
ENST00000465637.5:n.179-3955A>T
NM_000821.5:c.1462A>T	NP_000812.2:p.Ile488Phe
NM_000821.6:c.1462A>T	NP_000812.2:p.Ile488Phe
NM_001142269.2:c.1291A>T	NP_001135741.1:p.Ile431Phe
NM_001142269.3:c.1291A>T	NP_001135741.1:p.Ile431Phe
XM_005264259.3:c.1462A>T	XP_005264316.1:p.Ile488Phe
XM_011532764.1:c.640A>T	XP_011531066.1:p.Ile214Phe
XM_011532765.1:c.640A>T	XP_011531067.1:p.Ile214Phe
XR_939677.1:n.1375A>T
XM_005264259.5:c.1462A>T	XP_005264316.1:p.Ile488Phe
XM_011532764.3:c.640A>T	XP_011531066.1:p.Ile214Phe
XM_011532765.3:c.640A>T	XP_011531067.1:p.Ile214Phe
XM_017003803.2:c.1291A>T	XP_016859292.1:p.Ile431Phe
XR_001738703.2:n.1375A>T
NM_000821.7:c.1462A>T MANE Select	NP_000812.2:p.Ile488Phe
NM_001142269.4:c.1291A>T	NP_001135741.1:p.Ile431Phe