Canonical Allele Identifier: CA136637302
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs529013964
gnomAD v2: 6-24301729-T-C
gnomAD v3: 6-24301501-T-C
gnomAD v4: 6-24301501-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24301501T>C , CM000668.2:g.24301501T>C GRCh38
NC_000006.11:g.24301729T>C , CM000668.1:g.24301729T>C GRCh37
NC_000006.10:g.24409708T>C NCBI36
NG_012829.1:g.61552A>G
NG_012829.2:g.86792A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.557+214A>G MANE Select ENSP00000367715.3:n.557+214A>G
ENST00000378454.7:c.557+214A>G ENSP00000367715.3:n.557+214A>G
NM_001195610.1:c.557+214A>G NP_001182539.1:n.557+214A>G
NM_016356.4:c.557+214A>G NP_057440.2:n.557+214A>G
NM_016356.5:c.557+214A>G MANE Select NP_057440.2:n.557+214A>G
NM_001195610.2:c.557+214A>G NP_001182539.1:n.557+214A>G