Canonical Allele Identifier: CA363280231
Gene: DCDC2 HGNC NCBI

Linked Data

gnomAD v4: 6-24290953-G-T
MyVariant Identifiers: chr6:g.24291181G>T (hg19) chr6:g.24290953G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290953G>T , CM000668.2:g.24290953G>T GRCh38
NC_000006.11:g.24291181G>T , CM000668.1:g.24291181G>T GRCh37
NC_000006.10:g.24399160G>T NCBI36
NG_012829.1:g.72100C>A
NG_012829.2:g.97340C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.683C>A MANE Select ENSP00000367715.3:p.Ser228Ter
ENST00000378454.7:c.683C>A ENSP00000367715.3:p.Ser228Ter
NM_001195610.1:c.683C>A NP_001182539.1:p.Ser228Ter
NM_016356.4:c.683C>A NP_057440.2:p.Ser228Ter
NM_016356.5:c.683C>A MANE Select NP_057440.2:p.Ser228Ter
NM_001195610.2:c.683C>A NP_001182539.1:p.Ser228Ter
Search 100 bp 5'
Search 100 bp 3'