Canonical Allele Identifier: CA3654749
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 466326
dbSNP Id: rs33914824
gnomAD v2: 6-24302046-G-C
gnomAD v3: 6-24301818-G-C
gnomAD v4: 6-24301818-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24301818G>C , CM000668.2:g.24301818G>C GRCh38
NC_000006.11:g.24302046G>C , CM000668.1:g.24302046G>C GRCh37
NC_000006.10:g.24410025G>C NCBI36
NG_012829.1:g.61235C>G
NG_012829.2:g.86475C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.454C>G MANE Select ENSP00000367715.3:p.Pro152Ala
ENST00000378454.7:c.454C>G ENSP00000367715.3:p.Pro152Ala
NM_001195610.1:c.454C>G NP_001182539.1:p.Pro152Ala
NM_016356.4:c.454C>G NP_057440.2:p.Pro152Ala
NM_016356.5:c.454C>G MANE Select NP_057440.2:p.Pro152Ala
NM_001195610.2:c.454C>G NP_001182539.1:p.Pro152Ala