Canonical Allele Identifier: CA3654492
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs747339767
gnomAD v2: 6-24178682-G-T
gnomAD v3: 6-24178454-G-T
gnomAD v4: 6-24178454-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178454G>T , CM000668.2:g.24178454G>T GRCh38
NC_000006.11:g.24178682G>T , CM000668.1:g.24178682G>T GRCh37
NC_000006.10:g.24286661G>T NCBI36
NG_012829.1:g.184599C>A
NG_012829.2:g.209839C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1202C>A MANE Select ENSP00000367715.3:p.Pro401His
ENST00000378450.6:c.461C>A ENSP00000367711.3:p.Pro154His
ENST00000378454.7:c.1202C>A ENSP00000367715.3:p.Pro401His
NM_001195610.1:c.1202C>A NP_001182539.1:p.Pro401His
NM_016356.4:c.1202C>A NP_057440.2:p.Pro401His
NM_016356.5:c.1202C>A MANE Select NP_057440.2:p.Pro401His
NM_001195610.2:c.1202C>A NP_001182539.1:p.Pro401His