Canonical Allele Identifier: CA347484926

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779027A>G (hg19) ; chr2:g.85551904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551904A>G , CM000664.2:g.85551904A>G	GRCh38
NC_000002.11:g.85779027A>G , CM000664.1:g.85779027A>G	GRCh37
NC_000002.10:g.85632538A>G	NCBI36
NG_011811.2:g.14631T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5995T>C
ENST00000482662.2:n.4402T>C
ENST00000685865.1:n.2354T>C
ENST00000687250.1:n.2054T>C
ENST00000687995.1:n.1869T>C
ENST00000688205.1:c.*1110T>C	ENSP00000509673.1:n.*1110T>C
ENST00000688788.1:n.1756T>C
ENST00000689276.1:c.1448T>C	ENSP00000510012.1:p.Leu483Ser
ENST00000689576.1:c.*136T>C	ENSP00000508712.1:n.*136T>C
ENST00000690108.1:c.*1173T>C	ENSP00000510617.1:n.*1173T>C
ENST00000690468.1:c.*69T>C	ENSP00000509078.1:n.*69T>C
ENST00000690595.1:c.842T>C	ENSP00000508979.1:p.Leu281Ser
ENST00000691348.1:c.*69T>C	ENSP00000509369.1:n.*69T>C
ENST00000691410.1:c.*1094T>C	ENSP00000508479.1:n.*1094T>C
ENST00000693287.1:c.833T>C	ENSP00000510264.1:p.Leu278Ser
ENST00000693681.1:c.830T>C	ENSP00000510789.1:p.Leu277Ser
ENST00000233838.9:c.1517T>C MANE Select	ENSP00000233838.3:p.Leu506Ser
ENST00000233838.8:c.1517T>C	ENSP00000233838.3:p.Leu506Ser
ENST00000430215.7:c.1346T>C	ENSP00000408045.3:p.Leu449Ser
ENST00000465637.5:n.179-3900T>C
NM_000821.5:c.1517T>C	NP_000812.2:p.Leu506Ser
NM_000821.6:c.1517T>C	NP_000812.2:p.Leu506Ser
NM_001142269.2:c.1346T>C	NP_001135741.1:p.Leu449Ser
NM_001142269.3:c.1346T>C	NP_001135741.1:p.Leu449Ser
XM_005264259.3:c.1517T>C	XP_005264316.1:p.Leu506Ser
XM_011532764.1:c.695T>C	XP_011531066.1:p.Leu232Ser
XM_011532765.1:c.695T>C	XP_011531067.1:p.Leu232Ser
XR_939677.1:n.1430T>C
XM_005264259.5:c.1517T>C	XP_005264316.1:p.Leu506Ser
XM_011532764.3:c.695T>C	XP_011531066.1:p.Leu232Ser
XM_011532765.3:c.695T>C	XP_011531067.1:p.Leu232Ser
XM_017003803.2:c.1346T>C	XP_016859292.1:p.Leu449Ser
XR_001738703.2:n.1430T>C
NM_000821.7:c.1517T>C MANE Select	NP_000812.2:p.Leu506Ser
NM_001142269.4:c.1346T>C	NP_001135741.1:p.Leu449Ser