Canonical Allele Identifier: CA3654543
Gene: DCDC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2662879
ClinVar RCV Id: RCV003441544 RCV003901086
dbSNP Id: rs187789776
ExAC: 6:24205244 C / G
gnomAD v2: 6-24205244-C-G
gnomAD v3: 6-24205016-C-G
gnomAD v4: 6-24205016-C-G
MyVariant Identifiers: chr6:g.24205244C>G (hg19) chr6:g.24205016C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24205016C>G , CM000668.2:g.24205016C>G GRCh38
NC_000006.11:g.24205244C>G , CM000668.1:g.24205244C>G GRCh37
NC_000006.10:g.24313223C>G NCBI36
NG_012829.1:g.158037G>C
NG_012829.2:g.183277G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378454.8:c.1009G>C MANE Select ENSP00000367715.3:p.Val337Leu
ENST00000378450.6:c.268G>C ENSP00000367711.3:p.Val90Leu
ENST00000378454.7:c.1009G>C ENSP00000367715.3:p.Val337Leu
NM_001195610.1:c.1009G>C NP_001182539.1:p.Val337Leu
NM_016356.4:c.1009G>C NP_057440.2:p.Val337Leu
NM_016356.5:c.1009G>C MANE Select NP_057440.2:p.Val337Leu
NM_001195610.2:c.1009G>C NP_001182539.1:p.Val337Leu
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