Canonical Allele Identifier: CA363277425
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs1472251223
gnomAD v2: 6-24205250-C-T
gnomAD v3: 6-24205022-C-T
gnomAD v4: 6-24205022-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24205022C>T , CM000668.2:g.24205022C>T GRCh38
NC_000006.11:g.24205250C>T , CM000668.1:g.24205250C>T GRCh37
NC_000006.10:g.24313229C>T NCBI36
NG_012829.1:g.158031G>A
NG_012829.2:g.183271G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1003G>A MANE Select ENSP00000367715.3:p.Val335Ile
ENST00000378450.6:c.262G>A ENSP00000367711.3:p.Val88Ile
ENST00000378454.7:c.1003G>A ENSP00000367715.3:p.Val335Ile
NM_001195610.1:c.1003G>A NP_001182539.1:p.Val335Ile
NM_016356.4:c.1003G>A NP_057440.2:p.Val335Ile
NM_016356.5:c.1003G>A MANE Select NP_057440.2:p.Val335Ile
NM_001195610.2:c.1003G>A NP_001182539.1:p.Val335Ile