Canonical Allele Identifier: CA210314
Gene: C2CD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 217560
dbSNP Id: rs150291837

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74049431C>T , CM000673.2:g.74049431C>T GRCh38
NC_000011.9:g.73760476C>T , CM000673.1:g.73760476C>T GRCh37
NC_000011.8:g.73438124C>T NCBI36
NG_041791.1:g.126589G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000334126.12:c.5267G>A MANE Select ENSP00000334379.7:p.Gly1756Glu
ENST00000414160.7:c.5267G>A ENSP00000388750.3:p.Gly1756Glu
ENST00000442398.7:c.5267G>A ENSP00000404577.3:p.Gly1756Glu
ENST00000538361.2:c.5267G>A ENSP00000441742.2:p.Gly1756Glu
ENST00000538625.2:n.685G>A
ENST00000679415.1:c.*4715G>A ENSP00000505672.1:n.*4715G>A
ENST00000679906.1:c.5267G>A ENSP00000505021.1:p.Gly1756Glu
ENST00000679940.1:n.311G>A
ENST00000680231.1:c.5267G>A ENSP00000505413.1:p.Gly1756Glu
ENST00000680665.1:c.5532G>A ENSP00000505527.1:n.5532G>A
ENST00000680839.1:c.*4224G>A ENSP00000506002.1:n.*4224G>A
ENST00000681143.1:c.5091-7213G>A ENSP00000505970.1:n.5091-7213G>A
ENST00000681233.1:n.4593G>A
ENST00000681291.1:c.*4719G>A ENSP00000505182.1:n.*4719G>A
ENST00000681310.1:c.5267G>A ENSP00000506236.1:p.Gly1756Glu
ENST00000681385.1:c.*4515G>A ENSP00000505069.1:n.*4515G>A
ENST00000681609.1:c.*3835G>A ENSP00000505133.1:n.*3835G>A
ENST00000681811.1:c.5172G>A ENSP00000506315.1:n.5172G>A
ENST00000681829.1:c.5267G>A ENSP00000505375.1:p.Gly1756Glu
ENST00000681924.1:c.5363G>A ENSP00000505101.1:n.5363G>A
ENST00000313663.11:c.5267G>A ENSP00000323339.7:p.Gly1756Glu
ENST00000334126.11:c.5267G>A ENSP00000334379.7:p.Gly1756Glu
ENST00000414160.6:c.1691G>A ENSP00000388750.2:p.Gly564Glu
ENST00000442398.6:c.1535G>A ENSP00000404577.2:p.Gly512Glu
NM_001286577.1:c.5267G>A NP_001273506.1:p.Gly1756Glu
NM_015531.5:c.5267G>A NP_056346.3:p.Gly1756Glu
XM_005273893.3:c.5267G>A XP_005273950.1:p.Gly1756Glu
XM_005273896.3:c.4718G>A XP_005273953.1:p.Gly1573Glu
XM_011544903.1:c.5297G>A XP_011543205.1:p.Gly1766Glu
XM_011544904.1:c.5297G>A XP_011543206.1:p.Gly1766Glu
XM_011544905.1:c.5297G>A XP_011543207.1:p.Gly1766Glu
XM_011544906.1:c.3374G>A XP_011543208.1:p.Gly1125Glu
XM_011544908.1:c.2591G>A XP_011543210.1:p.Gly864Glu
XM_011544909.1:c.2471G>A XP_011543211.1:p.Gly824Glu
XR_949869.1:n.5393G>A
XR_949870.1:n.5393G>A
XR_949871.1:n.5393G>A
XR_949872.1:n.5393G>A
XM_017017510.1:c.5297G>A XP_016872999.1:p.Gly1766Glu
XM_017017511.2:c.4718G>A XP_016873000.1:p.Gly1573Glu
XM_017017512.1:c.3728G>A XP_016873001.1:p.Gly1243Glu
XM_017017513.1:c.3374G>A XP_016873002.1:p.Gly1125Glu
XM_017017515.2:c.2591G>A XP_016873004.1:p.Gly864Glu
XM_017017516.1:c.2471G>A XP_016873005.1:p.Gly824Glu
XR_001747826.1:n.5393G>A
XR_001747827.1:n.5254G>A
XR_001747828.2:n.5658G>A
NM_015531.6:c.5267G>A NP_056346.3:p.Gly1756Glu
NM_001286577.2:c.5267G>A MANE Select NP_001273506.1:p.Gly1756Glu