Canonical Allele Identifier: CA347485075

Gene: GGCX

Linked Data

• dbSNP Id: rs1691977362
• gnomAD v3: 2-85551976-A-G
• gnomAD v4: 2-85551976-A-G
• MyVariant Identifiers: chr2:g.85779099A>G (hg19) ; chr2:g.85551976A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551976A>G , CM000664.2:g.85551976A>G	GRCh38
NC_000002.11:g.85779099A>G , CM000664.1:g.85779099A>G	GRCh37
NC_000002.10:g.85632610A>G	NCBI36
NG_011811.2:g.14559T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5923T>C
ENST00000482662.2:n.4330T>C
ENST00000685865.1:n.2282T>C
ENST00000687250.1:n.1982T>C
ENST00000687995.1:n.1797T>C
ENST00000688205.1:c.*1038T>C	ENSP00000509673.1:n.*1038T>C
ENST00000688788.1:n.1684T>C
ENST00000689276.1:c.1376T>C	ENSP00000510012.1:p.Phe459Ser
ENST00000689576.1:c.*64T>C	ENSP00000508712.1:n.*64T>C
ENST00000690108.1:c.*1101T>C	ENSP00000510617.1:n.*1101T>C
ENST00000690468.1:c.1014T>C	ENSP00000509078.1:p.Phe338=
ENST00000690595.1:c.770T>C	ENSP00000508979.1:p.Phe257Ser
ENST00000691348.1:c.1122T>C	ENSP00000509369.1:p.Phe374=
ENST00000691410.1:c.*1022T>C	ENSP00000508479.1:n.*1022T>C
ENST00000693287.1:c.761T>C	ENSP00000510264.1:p.Phe254Ser
ENST00000693681.1:c.758T>C	ENSP00000510789.1:p.Phe253Ser
ENST00000233838.9:c.1445T>C MANE Select	ENSP00000233838.3:p.Phe482Ser
ENST00000233838.8:c.1445T>C	ENSP00000233838.3:p.Phe482Ser
ENST00000430215.7:c.1274T>C	ENSP00000408045.3:p.Phe425Ser
ENST00000465637.5:n.179-3972T>C
NM_000821.5:c.1445T>C	NP_000812.2:p.Phe482Ser
NM_000821.6:c.1445T>C	NP_000812.2:p.Phe482Ser
NM_001142269.2:c.1274T>C	NP_001135741.1:p.Phe425Ser
NM_001142269.3:c.1274T>C	NP_001135741.1:p.Phe425Ser
XM_005264259.3:c.1445T>C	XP_005264316.1:p.Phe482Ser
XM_011532764.1:c.623T>C	XP_011531066.1:p.Phe208Ser
XM_011532765.1:c.623T>C	XP_011531067.1:p.Phe208Ser
XR_939677.1:n.1358T>C
XM_005264259.5:c.1445T>C	XP_005264316.1:p.Phe482Ser
XM_011532764.3:c.623T>C	XP_011531066.1:p.Phe208Ser
XM_011532765.3:c.623T>C	XP_011531067.1:p.Phe208Ser
XM_017003803.2:c.1274T>C	XP_016859292.1:p.Phe425Ser
XR_001738703.2:n.1358T>C
NM_000821.7:c.1445T>C MANE Select	NP_000812.2:p.Phe482Ser
NM_001142269.4:c.1274T>C	NP_001135741.1:p.Phe425Ser