Canonical Allele Identifier: CA363281277
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs904520404
gnomAD v2: 6-24302238-G-A
gnomAD v3: 6-24302010-G-A
gnomAD v4: 6-24302010-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24302010G>A , CM000668.2:g.24302010G>A GRCh38
NC_000006.11:g.24302238G>A , CM000668.1:g.24302238G>A GRCh37
NC_000006.10:g.24410217G>A NCBI36
NG_012829.1:g.61043C>T
NG_012829.2:g.86283C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.383C>T MANE Select ENSP00000367715.3:p.Ser128Leu
ENST00000378454.7:c.383C>T ENSP00000367715.3:p.Ser128Leu
NM_001195610.1:c.383C>T NP_001182539.1:p.Ser128Leu
NM_016356.4:c.383C>T NP_057440.2:p.Ser128Leu
NM_016356.5:c.383C>T MANE Select NP_057440.2:p.Ser128Leu
NM_001195610.2:c.383C>T NP_001182539.1:p.Ser128Leu