Canonical Allele Identifier: CA427440007
Gene: GGCX HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.85778954G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551831G>C , CM000664.2:g.85551831G>C GRCh38
NC_000002.11:g.85778954G>C , CM000664.1:g.85778954G>C GRCh37
NC_000002.10:g.85632465G>C NCBI36
NG_011811.2:g.14704C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6068C>G
ENST00000482662.2:n.4475C>G
ENST00000685865.1:n.2427C>G
ENST00000687250.1:n.2127C>G
ENST00000687995.1:n.1942C>G
ENST00000688205.1:c.*1183C>G ENSP00000509673.1:n.*1183C>G
ENST00000688788.1:n.1829C>G
ENST00000689276.1:c.1521C>G ENSP00000510012.1:p.Val507=
ENST00000689576.1:c.*209C>G ENSP00000508712.1:n.*209C>G
ENST00000690108.1:c.*1246C>G ENSP00000510617.1:n.*1246C>G
ENST00000690468.1:c.*142C>G ENSP00000509078.1:n.*142C>G
ENST00000690595.1:c.915C>G ENSP00000508979.1:p.Val305=
ENST00000691348.1:c.*142C>G ENSP00000509369.1:n.*142C>G
ENST00000691410.1:c.*1167C>G ENSP00000508479.1:n.*1167C>G
ENST00000693287.1:c.906C>G ENSP00000510264.1:p.Val302=
ENST00000693681.1:c.903C>G ENSP00000510789.1:p.Val301=
ENST00000233838.9:c.1590C>G MANE Select ENSP00000233838.3:p.Val530=
ENST00000233838.8:c.1590C>G ENSP00000233838.3:p.Val530=
ENST00000430215.7:c.1419C>G ENSP00000408045.3:p.Val473=
ENST00000465637.5:n.179-3827C>G
NM_000821.5:c.1590C>G NP_000812.2:p.Val530=
NM_000821.6:c.1590C>G NP_000812.2:p.Val530=
NM_001142269.2:c.1419C>G NP_001135741.1:p.Val473=
NM_001142269.3:c.1419C>G NP_001135741.1:p.Val473=
XM_005264259.3:c.1590C>G XP_005264316.1:p.Val530=
XM_011532764.1:c.768C>G XP_011531066.1:p.Val256=
XM_011532765.1:c.768C>G XP_011531067.1:p.Val256=
XR_939677.1:n.1503C>G
XM_005264259.5:c.1590C>G XP_005264316.1:p.Val530=
XM_011532764.3:c.768C>G XP_011531066.1:p.Val256=
XM_011532765.3:c.768C>G XP_011531067.1:p.Val256=
XM_017003803.2:c.1419C>G XP_016859292.1:p.Val473=
XR_001738703.2:n.1503C>G
NM_000821.7:c.1590C>G MANE Select NP_000812.2:p.Val530=
NM_001142269.4:c.1419C>G NP_001135741.1:p.Val473=