Canonical Allele Identifier: CA347484974

Gene: GGCX

Linked Data

• ClinVar Variation Id: 2175900
• ClinVar RCV Id: RCV002582111
• gnomAD v4: 2-85551928-C-A
• MyVariant Identifiers: chr2:g.85779051C>A (hg19) ; chr2:g.85551928C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551928C>A , CM000664.2:g.85551928C>A	GRCh38
NC_000002.11:g.85779051C>A , CM000664.1:g.85779051C>A	GRCh37
NC_000002.10:g.85632562C>A	NCBI36
NG_011811.2:g.14607G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5971G>T
ENST00000482662.2:n.4378G>T
ENST00000685865.1:n.2330G>T
ENST00000687250.1:n.2030G>T
ENST00000687995.1:n.1845G>T
ENST00000688205.1:c.*1086G>T	ENSP00000509673.1:n.*1086G>T
ENST00000688788.1:n.1732G>T
ENST00000689276.1:c.1424G>T	ENSP00000510012.1:p.Arg475Leu
ENST00000689576.1:c.*112G>T	ENSP00000508712.1:n.*112G>T
ENST00000690108.1:c.*1149G>T	ENSP00000510617.1:n.*1149G>T
ENST00000690468.1:c.*45G>T	ENSP00000509078.1:n.*45G>T
ENST00000690595.1:c.818G>T	ENSP00000508979.1:p.Arg273Leu
ENST00000691348.1:c.*45G>T	ENSP00000509369.1:n.*45G>T
ENST00000691410.1:c.*1070G>T	ENSP00000508479.1:n.*1070G>T
ENST00000693287.1:c.809G>T	ENSP00000510264.1:p.Arg270Leu
ENST00000693681.1:c.806G>T	ENSP00000510789.1:p.Arg269Leu
ENST00000233838.9:c.1493G>T MANE Select	ENSP00000233838.3:p.Arg498Leu
ENST00000233838.8:c.1493G>T	ENSP00000233838.3:p.Arg498Leu
ENST00000430215.7:c.1322G>T	ENSP00000408045.3:p.Arg441Leu
ENST00000465637.5:n.179-3924G>T
NM_000821.5:c.1493G>T	NP_000812.2:p.Arg498Leu
NM_000821.6:c.1493G>T	NP_000812.2:p.Arg498Leu
NM_001142269.2:c.1322G>T	NP_001135741.1:p.Arg441Leu
NM_001142269.3:c.1322G>T	NP_001135741.1:p.Arg441Leu
XM_005264259.3:c.1493G>T	XP_005264316.1:p.Arg498Leu
XM_011532764.1:c.671G>T	XP_011531066.1:p.Arg224Leu
XM_011532765.1:c.671G>T	XP_011531067.1:p.Arg224Leu
XR_939677.1:n.1406G>T
XM_005264259.5:c.1493G>T	XP_005264316.1:p.Arg498Leu
XM_011532764.3:c.671G>T	XP_011531066.1:p.Arg224Leu
XM_011532765.3:c.671G>T	XP_011531067.1:p.Arg224Leu
XM_017003803.2:c.1322G>T	XP_016859292.1:p.Arg441Leu
XR_001738703.2:n.1406G>T
NM_000821.7:c.1493G>T MANE Select	NP_000812.2:p.Arg498Leu
NM_001142269.4:c.1322G>T	NP_001135741.1:p.Arg441Leu