Canonical Allele Identifier: CA136636020
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs980124028
gnomAD v2: 6-24291241-A-G
gnomAD v4: 6-24291013-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24291013A>G , CM000668.2:g.24291013A>G GRCh38
NC_000006.11:g.24291241A>G , CM000668.1:g.24291241A>G GRCh37
NC_000006.10:g.24399220A>G NCBI36
NG_012829.1:g.72040T>C
NG_012829.2:g.97280T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.623T>C MANE Select ENSP00000367715.3:p.Val208Ala
ENST00000378454.7:c.623T>C ENSP00000367715.3:p.Val208Ala
NM_001195610.1:c.623T>C NP_001182539.1:p.Val208Ala
NM_016356.4:c.623T>C NP_057440.2:p.Val208Ala
NM_016356.5:c.623T>C MANE Select NP_057440.2:p.Val208Ala
NM_001195610.2:c.623T>C NP_001182539.1:p.Val208Ala