Canonical Allele Identifier: CA347484930

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779030A>G (hg19) ; chr2:g.85551907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551907A>G , CM000664.2:g.85551907A>G	GRCh38
NC_000002.11:g.85779030A>G , CM000664.1:g.85779030A>G	GRCh37
NC_000002.10:g.85632541A>G	NCBI36
NG_011811.2:g.14628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5992T>C
ENST00000482662.2:n.4399T>C
ENST00000685865.1:n.2351T>C
ENST00000687250.1:n.2051T>C
ENST00000687995.1:n.1866T>C
ENST00000688205.1:c.*1107T>C	ENSP00000509673.1:n.*1107T>C
ENST00000688788.1:n.1753T>C
ENST00000689276.1:c.1445T>C	ENSP00000510012.1:p.Leu482Pro
ENST00000689576.1:c.*133T>C	ENSP00000508712.1:n.*133T>C
ENST00000690108.1:c.*1170T>C	ENSP00000510617.1:n.*1170T>C
ENST00000690468.1:c.*66T>C	ENSP00000509078.1:n.*66T>C
ENST00000690595.1:c.839T>C	ENSP00000508979.1:p.Leu280Pro
ENST00000691348.1:c.*66T>C	ENSP00000509369.1:n.*66T>C
ENST00000691410.1:c.*1091T>C	ENSP00000508479.1:n.*1091T>C
ENST00000693287.1:c.830T>C	ENSP00000510264.1:p.Leu277Pro
ENST00000693681.1:c.827T>C	ENSP00000510789.1:p.Leu276Pro
ENST00000233838.9:c.1514T>C MANE Select	ENSP00000233838.3:p.Leu505Pro
ENST00000233838.8:c.1514T>C	ENSP00000233838.3:p.Leu505Pro
ENST00000430215.7:c.1343T>C	ENSP00000408045.3:p.Leu448Pro
ENST00000465637.5:n.179-3903T>C
NM_000821.5:c.1514T>C	NP_000812.2:p.Leu505Pro
NM_000821.6:c.1514T>C	NP_000812.2:p.Leu505Pro
NM_001142269.2:c.1343T>C	NP_001135741.1:p.Leu448Pro
NM_001142269.3:c.1343T>C	NP_001135741.1:p.Leu448Pro
XM_005264259.3:c.1514T>C	XP_005264316.1:p.Leu505Pro
XM_011532764.1:c.692T>C	XP_011531066.1:p.Leu231Pro
XM_011532765.1:c.692T>C	XP_011531067.1:p.Leu231Pro
XR_939677.1:n.1427T>C
XM_005264259.5:c.1514T>C	XP_005264316.1:p.Leu505Pro
XM_011532764.3:c.692T>C	XP_011531066.1:p.Leu231Pro
XM_011532765.3:c.692T>C	XP_011531067.1:p.Leu231Pro
XM_017003803.2:c.1343T>C	XP_016859292.1:p.Leu448Pro
XR_001738703.2:n.1427T>C
NM_000821.7:c.1514T>C MANE Select	NP_000812.2:p.Leu505Pro
NM_001142269.4:c.1343T>C	NP_001135741.1:p.Leu448Pro