Canonical Allele Identifier: CA448951193
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs1763732054
gnomAD v4: 6-24290994-C-T
MyVariant Identifiers: chr6:g.24291222C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290994C>T , CM000668.2:g.24290994C>T GRCh38
NC_000006.11:g.24291222C>T , CM000668.1:g.24291222C>T GRCh37
NC_000006.10:g.24399201C>T NCBI36
NG_012829.1:g.72059G>A
NG_012829.2:g.97299G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.642G>A MANE Select ENSP00000367715.3:p.Lys214=
ENST00000378454.7:c.642G>A ENSP00000367715.3:p.Lys214=
NM_001195610.1:c.642G>A NP_001182539.1:p.Lys214=
NM_016356.4:c.642G>A NP_057440.2:p.Lys214=
NM_016356.5:c.642G>A MANE Select NP_057440.2:p.Lys214=
NM_001195610.2:c.642G>A NP_001182539.1:p.Lys214=