Canonical Allele Identifier: CA6183100
Gene: C2CD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1583232
ClinVar RCV Id: RCV002111409
dbSNP Id: rs3915257

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74138709T>C , CM000673.2:g.74138709T>C GRCh38
NC_000011.9:g.73849754T>C , CM000673.1:g.73849754T>C GRCh37
NC_000011.8:g.73527402T>C NCBI36
NG_041791.1:g.37311A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334126.12:c.955+11A>G MANE Select ENSP00000334379.7:n.955+11A>G
ENST00000414160.7:c.955+11A>G ENSP00000388750.3:n.955+11A>G
ENST00000442398.7:c.955+11A>G ENSP00000404577.3:n.955+11A>G
ENST00000538361.2:c.955+11A>G ENSP00000441742.2:n.955+11A>G
ENST00000539061.6:c.955+11A>G ENSP00000445933.2:n.955+11A>G
ENST00000679415.1:c.*407+11A>G ENSP00000505672.1:n.*407+11A>G
ENST00000679906.1:c.955+11A>G ENSP00000505021.1:n.955+11A>G
ENST00000680173.1:n.884A>G
ENST00000680231.1:c.955+11A>G ENSP00000505413.1:n.955+11A>G
ENST00000680306.1:n.1026+11A>G
ENST00000680645.1:c.955+11A>G ENSP00000506347.1:n.955+11A>G
ENST00000680665.1:c.955+11A>G ENSP00000505527.1:n.955+11A>G
ENST00000680718.1:c.955+11A>G ENSP00000505340.1:n.955+11A>G
ENST00000680839.1:c.*407+11A>G ENSP00000506002.1:n.*407+11A>G
ENST00000681000.1:n.1224+11A>G
ENST00000681143.1:c.955+11A>G ENSP00000505970.1:n.955+11A>G
ENST00000681291.1:c.*407+11A>G ENSP00000505182.1:n.*407+11A>G
ENST00000681310.1:c.955+11A>G ENSP00000506236.1:n.955+11A>G
ENST00000681385.1:c.*407+11A>G ENSP00000505069.1:n.*407+11A>G
ENST00000681609.1:c.955+11A>G ENSP00000505133.1:n.955+11A>G
ENST00000681811.1:c.955+11A>G ENSP00000506315.1:n.955+11A>G
ENST00000681829.1:c.955+11A>G ENSP00000505375.1:n.955+11A>G
ENST00000681924.1:c.955+11A>G ENSP00000505101.1:n.955+11A>G
ENST00000313663.11:c.955+11A>G ENSP00000323339.7:n.955+11A>G
ENST00000334126.11:c.955+11A>G ENSP00000334379.7:n.955+11A>G
ENST00000415191.6:n.1120+11A>G
ENST00000539061.5:c.955+11A>G ENSP00000445933.1:n.955+11A>G
NM_001286577.1:c.955+11A>G NP_001273506.1:n.955+11A>G
NM_015531.5:c.955+11A>G NP_056346.3:n.955+11A>G
XM_005273893.3:c.955+11A>G XP_005273950.1:n.955+11A>G
XM_005273896.3:c.406+11A>G XP_005273953.1:n.406+11A>G
XM_011544903.1:c.985+11A>G XP_011543205.1:n.985+11A>G
XM_011544904.1:c.985+11A>G XP_011543206.1:n.985+11A>G
XM_011544905.1:c.985+11A>G XP_011543207.1:n.985+11A>G
XM_011544907.1:c.985+11A>G XP_011543209.1:n.985+11A>G
XR_949869.1:n.1081+11A>G
XR_949870.1:n.1081+11A>G
XR_949871.1:n.1081+11A>G
XR_949872.1:n.1081+11A>G
XR_949874.1:n.1081+11A>G
XM_017017510.1:c.985+11A>G XP_016872999.1:n.985+11A>G
XM_017017511.2:c.406+11A>G XP_016873000.1:n.406+11A>G
XM_017017512.1:c.-437+11A>G XP_016873001.1:n.-437+11A>G
XM_017017514.1:c.985+11A>G XP_016873003.1:n.985+11A>G
XR_001747826.1:n.1081+11A>G
XR_001747827.1:n.1081+11A>G
XR_001747828.2:n.1081+11A>G
NM_015531.6:c.955+11A>G NP_056346.3:n.955+11A>G
NM_001286577.2:c.955+11A>G MANE Select NP_001273506.1:n.955+11A>G