Canonical Allele Identifier: CA16619406
Gene: C2CD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 419541
ClinVar RCV Id: RCV000481894
dbSNP Id: rs1064793941

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74085617C>T , CM000673.2:g.74085617C>T GRCh38
NC_000011.9:g.73796662C>T , CM000673.1:g.73796662C>T GRCh37
NC_000011.8:g.73474310C>T NCBI36
NG_041791.1:g.90403G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000334126.12:c.3910+1G>A MANE Select ENSP00000334379.7:n.3910+1G>A
ENST00000414160.7:c.3910+1G>A ENSP00000388750.3:n.3910+1G>A
ENST00000442398.7:c.3910+1G>A ENSP00000404577.3:n.3910+1G>A
ENST00000538361.2:c.3910+1G>A ENSP00000441742.2:n.3910+1G>A
ENST00000679415.1:c.*3358+1G>A ENSP00000505672.1:n.*3358+1G>A
ENST00000679906.1:c.3910+1G>A ENSP00000505021.1:n.3910+1G>A
ENST00000680231.1:c.3910+1G>A ENSP00000505413.1:n.3910+1G>A
ENST00000680665.1:c.3910+1G>A ENSP00000505527.1:n.3910+1G>A
ENST00000680839.1:c.*2867+1G>A ENSP00000506002.1:n.*2867+1G>A
ENST00000681143.1:c.3910+1G>A ENSP00000505970.1:n.3910+1G>A
ENST00000681291.1:c.*3362+1G>A ENSP00000505182.1:n.*3362+1G>A
ENST00000681310.1:c.3910+1G>A ENSP00000506236.1:n.3910+1G>A
ENST00000681385.1:c.*3362+1G>A ENSP00000505069.1:n.*3362+1G>A
ENST00000681609.1:c.*2478+1G>A ENSP00000505133.1:n.*2478+1G>A
ENST00000681811.1:c.3910+1G>A ENSP00000506315.1:n.3910+1G>A
ENST00000681829.1:c.3910+1G>A ENSP00000505375.1:n.3910+1G>A
ENST00000681924.1:c.3911G>A ENSP00000505101.1:p.Gly1304Asp
ENST00000313663.11:c.3910+1G>A ENSP00000323339.7:n.3910+1G>A
ENST00000334126.11:c.3910+1G>A ENSP00000334379.7:n.3910+1G>A
ENST00000414160.6:c.334+1G>A ENSP00000388750.2:n.334+1G>A
ENST00000442398.6:c.178+1G>A ENSP00000404577.2:n.178+1G>A
ENST00000540057.1:n.461G>A
NM_001286577.1:c.3910+1G>A NP_001273506.1:n.3910+1G>A
NM_015531.5:c.3910+1G>A NP_056346.3:n.3910+1G>A
XM_005273893.3:c.3910+1G>A XP_005273950.1:n.3910+1G>A
XM_005273896.3:c.3361+1G>A XP_005273953.1:n.3361+1G>A
XM_011544903.1:c.3940+1G>A XP_011543205.1:n.3940+1G>A
XM_011544904.1:c.3940+1G>A XP_011543206.1:n.3940+1G>A
XM_011544905.1:c.3940+1G>A XP_011543207.1:n.3940+1G>A
XM_011544906.1:c.2017+1G>A XP_011543208.1:n.2017+1G>A
XM_011544907.1:c.3940+1G>A XP_011543209.1:n.3940+1G>A
XM_011544908.1:c.1234+1G>A XP_011543210.1:n.1234+1G>A
XM_011544909.1:c.1114+1G>A XP_011543211.1:n.1114+1G>A
XR_949869.1:n.4036+1G>A
XR_949870.1:n.4036+1G>A
XR_949871.1:n.4036+1G>A
XR_949872.1:n.4036+1G>A
XR_949874.1:n.4036+1G>A
XM_017017510.1:c.3940+1G>A XP_016872999.1:n.3940+1G>A
XM_017017511.2:c.3361+1G>A XP_016873000.1:n.3361+1G>A
XM_017017512.1:c.2371+1G>A XP_016873001.1:n.2371+1G>A
XM_017017513.1:c.2017+1G>A XP_016873002.1:n.2017+1G>A
XM_017017514.1:c.3940+1G>A XP_016873003.1:n.3940+1G>A
XM_017017515.2:c.1234+1G>A XP_016873004.1:n.1234+1G>A
XM_017017516.1:c.1114+1G>A XP_016873005.1:n.1114+1G>A
XR_001747826.1:n.4036+1G>A
XR_001747827.1:n.4036+1G>A
XR_001747828.2:n.4036+1G>A
NM_015531.6:c.3910+1G>A NP_056346.3:n.3910+1G>A
NM_001286577.2:c.3910+1G>A MANE Select NP_001273506.1:n.3910+1G>A