Canonical Allele Identifier: CA347487087

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780159T>G (hg19) ; chr2:g.85553036T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553036T>G , CM000664.2:g.85553036T>G	GRCh38
NC_000002.11:g.85780159T>G , CM000664.1:g.85780159T>G	GRCh37
NC_000002.10:g.85633670T>G	NCBI36
NG_011811.2:g.13499A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5234A>C
ENST00000482662.2:n.3641A>C
ENST00000685865.1:n.1593A>C
ENST00000687250.1:n.1293A>C
ENST00000687995.1:n.1542A>C
ENST00000688205.1:c.*783A>C	ENSP00000509673.1:n.*783A>C
ENST00000688788.1:n.1429A>C
ENST00000689276.1:c.1121A>C	ENSP00000510012.1:p.Tyr374Ser
ENST00000689576.1:c.1190A>C	ENSP00000508712.1:p.Tyr397Ser
ENST00000690108.1:c.*846A>C	ENSP00000510617.1:n.*846A>C
ENST00000690468.1:c.911A>C	ENSP00000509078.1:p.Tyr304Ser
ENST00000690595.1:c.515A>C	ENSP00000508979.1:p.Tyr172Ser
ENST00000691348.1:c.1019A>C	ENSP00000509369.1:p.Tyr340Ser
ENST00000691410.1:c.*767A>C	ENSP00000508479.1:n.*767A>C
ENST00000693287.1:c.506A>C	ENSP00000510264.1:p.Tyr169Ser
ENST00000693681.1:c.503A>C	ENSP00000510789.1:p.Tyr168Ser
ENST00000233838.9:c.1190A>C MANE Select	ENSP00000233838.3:p.Tyr397Ser
ENST00000233838.8:c.1190A>C	ENSP00000233838.3:p.Tyr397Ser
ENST00000430215.7:c.1019A>C	ENSP00000408045.3:p.Tyr340Ser
ENST00000465637.5:n.179-5032A>C
ENST00000473665.1:n.683A>C
ENST00000482662.1:n.607A>C
NM_000821.5:c.1190A>C	NP_000812.2:p.Tyr397Ser
NM_000821.6:c.1190A>C	NP_000812.2:p.Tyr397Ser
NM_001142269.2:c.1019A>C	NP_001135741.1:p.Tyr340Ser
NM_001142269.3:c.1019A>C	NP_001135741.1:p.Tyr340Ser
XM_005264259.3:c.1190A>C	XP_005264316.1:p.Tyr397Ser
XM_011532764.1:c.368A>C	XP_011531066.1:p.Tyr123Ser
XM_011532765.1:c.368A>C	XP_011531067.1:p.Tyr123Ser
XR_939677.1:n.1255A>C
XM_005264259.5:c.1190A>C	XP_005264316.1:p.Tyr397Ser
XM_011532764.3:c.368A>C	XP_011531066.1:p.Tyr123Ser
XM_011532765.3:c.368A>C	XP_011531067.1:p.Tyr123Ser
XM_017003803.2:c.1019A>C	XP_016859292.1:p.Tyr340Ser
XR_001738703.2:n.1255A>C
NM_000821.7:c.1190A>C MANE Select	NP_000812.2:p.Tyr397Ser
NM_001142269.4:c.1019A>C	NP_001135741.1:p.Tyr340Ser