Canonical Allele Identifier: CA347485041

Gene: GGCX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5940A>G
ENST00000482662.2:n.4347A>G
ENST00000685865.1:n.2299A>G
ENST00000687250.1:n.1999A>G
ENST00000687995.1:n.1814A>G
ENST00000688205.1:c.*1055A>G	ENSP00000509673.1:n.*1055A>G
ENST00000688788.1:n.1701A>G
ENST00000689276.1:c.1393A>G	ENSP00000510012.1:p.Ile465Val
ENST00000689576.1:c.*81A>G	ENSP00000508712.1:n.*81A>G
ENST00000690108.1:c.*1118A>G	ENSP00000510617.1:n.*1118A>G
ENST00000690468.1:c.*14A>G	ENSP00000509078.1:n.*14A>G
ENST00000690595.1:c.787A>G	ENSP00000508979.1:p.Ile263Val
ENST00000691348.1:c.*14A>G	ENSP00000509369.1:n.*14A>G
ENST00000691410.1:c.*1039A>G	ENSP00000508479.1:n.*1039A>G
ENST00000693287.1:c.778A>G	ENSP00000510264.1:p.Ile260Val
ENST00000693681.1:c.775A>G	ENSP00000510789.1:p.Ile259Val
ENST00000233838.9:c.1462A>G MANE Select	ENSP00000233838.3:p.Ile488Val
ENST00000233838.8:c.1462A>G	ENSP00000233838.3:p.Ile488Val
ENST00000430215.7:c.1291A>G	ENSP00000408045.3:p.Ile431Val
ENST00000465637.5:n.179-3955A>G
NM_000821.5:c.1462A>G	NP_000812.2:p.Ile488Val
NM_000821.6:c.1462A>G	NP_000812.2:p.Ile488Val
NM_001142269.2:c.1291A>G	NP_001135741.1:p.Ile431Val
NM_001142269.3:c.1291A>G	NP_001135741.1:p.Ile431Val
XM_005264259.3:c.1462A>G	XP_005264316.1:p.Ile488Val
XM_011532764.1:c.640A>G	XP_011531066.1:p.Ile214Val
XM_011532765.1:c.640A>G	XP_011531067.1:p.Ile214Val
XR_939677.1:n.1375A>G
XM_005264259.5:c.1462A>G	XP_005264316.1:p.Ile488Val
XM_011532764.3:c.640A>G	XP_011531066.1:p.Ile214Val
XM_011532765.3:c.640A>G	XP_011531067.1:p.Ile214Val
XM_017003803.2:c.1291A>G	XP_016859292.1:p.Ile431Val
XR_001738703.2:n.1375A>G
NM_000821.7:c.1462A>G MANE Select	NP_000812.2:p.Ile488Val
NM_001142269.4:c.1291A>G	NP_001135741.1:p.Ile431Val