Canonical Allele Identifier: CA136625646
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs534555710
gnomAD v2: 6-24204869-C-G
gnomAD v3: 6-24204641-C-G
gnomAD v4: 6-24204641-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24204641C>G , CM000668.2:g.24204641C>G GRCh38
NC_000006.11:g.24204869C>G , CM000668.1:g.24204869C>G GRCh37
NC_000006.10:g.24312848C>G NCBI36
NG_012829.1:g.158412G>C
NG_012829.2:g.183652G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1023+361G>C MANE Select ENSP00000367715.3:n.1023+361G>C
ENST00000378450.6:c.282+361G>C ENSP00000367711.3:n.282+361G>C
ENST00000378454.7:c.1023+361G>C ENSP00000367715.3:n.1023+361G>C
NM_001195610.1:c.1023+361G>C NP_001182539.1:n.1023+361G>C
NM_016356.4:c.1023+361G>C NP_057440.2:n.1023+361G>C
NM_016356.5:c.1023+361G>C MANE Select NP_057440.2:n.1023+361G>C
NM_001195610.2:c.1023+361G>C NP_001182539.1:n.1023+361G>C