Canonical Allele Identifier: CA427439990
Gene: GGCX HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.85778945T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551822T>G , CM000664.2:g.85551822T>G GRCh38
NC_000002.11:g.85778945T>G , CM000664.1:g.85778945T>G GRCh37
NC_000002.10:g.85632456T>G NCBI36
NG_011811.2:g.14713A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6077A>C
ENST00000482662.2:n.4484A>C
ENST00000685865.1:n.2436A>C
ENST00000687250.1:n.2136A>C
ENST00000687995.1:n.1951A>C
ENST00000688205.1:c.*1192A>C ENSP00000509673.1:n.*1192A>C
ENST00000688788.1:n.1838A>C
ENST00000689276.1:c.1530A>C ENSP00000510012.1:p.Ala510=
ENST00000689576.1:c.*218A>C ENSP00000508712.1:n.*218A>C
ENST00000690108.1:c.*1255A>C ENSP00000510617.1:n.*1255A>C
ENST00000690468.1:c.*151A>C ENSP00000509078.1:n.*151A>C
ENST00000690595.1:c.924A>C ENSP00000508979.1:p.Ala308=
ENST00000691348.1:c.*151A>C ENSP00000509369.1:n.*151A>C
ENST00000691410.1:c.*1176A>C ENSP00000508479.1:n.*1176A>C
ENST00000693287.1:c.915A>C ENSP00000510264.1:p.Ala305=
ENST00000693681.1:c.912A>C ENSP00000510789.1:p.Ala304=
ENST00000233838.9:c.1599A>C MANE Select ENSP00000233838.3:p.Ala533=
ENST00000233838.8:c.1599A>C ENSP00000233838.3:p.Ala533=
ENST00000430215.7:c.1428A>C ENSP00000408045.3:p.Ala476=
ENST00000465637.5:n.179-3818A>C
NM_000821.5:c.1599A>C NP_000812.2:p.Ala533=
NM_000821.6:c.1599A>C NP_000812.2:p.Ala533=
NM_001142269.2:c.1428A>C NP_001135741.1:p.Ala476=
NM_001142269.3:c.1428A>C NP_001135741.1:p.Ala476=
XM_005264259.3:c.1599A>C XP_005264316.1:p.Ala533=
XM_011532764.1:c.777A>C XP_011531066.1:p.Ala259=
XM_011532765.1:c.777A>C XP_011531067.1:p.Ala259=
XR_939677.1:n.1512A>C
XM_005264259.5:c.1599A>C XP_005264316.1:p.Ala533=
XM_011532764.3:c.777A>C XP_011531066.1:p.Ala259=
XM_011532765.3:c.777A>C XP_011531067.1:p.Ala259=
XM_017003803.2:c.1428A>C XP_016859292.1:p.Ala476=
XR_001738703.2:n.1512A>C
NM_000821.7:c.1599A>C MANE Select NP_000812.2:p.Ala533=
NM_001142269.4:c.1428A>C NP_001135741.1:p.Ala476=