Canonical Allele Identifier: CA136636019
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs905132941
gnomAD v4: 6-24290955-C-G
MyVariant Identifiers: chr6:g.24291183C>G (hg19) chr6:g.24290955C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24290955C>G , CM000668.2:g.24290955C>G GRCh38
NC_000006.11:g.24291183C>G , CM000668.1:g.24291183C>G GRCh37
NC_000006.10:g.24399162C>G NCBI36
NG_012829.1:g.72098G>C
NG_012829.2:g.97338G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.681G>C MANE Select ENSP00000367715.3:p.Lys227Asn
ENST00000378454.7:c.681G>C ENSP00000367715.3:p.Lys227Asn
NM_001195610.1:c.681G>C NP_001182539.1:p.Lys227Asn
NM_016356.4:c.681G>C NP_057440.2:p.Lys227Asn
NM_016356.5:c.681G>C MANE Select NP_057440.2:p.Lys227Asn
NM_001195610.2:c.681G>C NP_001182539.1:p.Lys227Asn
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