Canonical Allele Identifier: CA363279892
Gene: DCDC2 HGNC NCBI

Linked Data

dbSNP Id: rs1490621486
gnomAD v2: 6-24178637-A-G
gnomAD v3: 6-24178409-A-G
gnomAD v4: 6-24178409-A-G
MyVariant Identifiers: chr6:g.24178637A>G (hg19) chr6:g.24178409A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24178409A>G , CM000668.2:g.24178409A>G GRCh38
NC_000006.11:g.24178637A>G , CM000668.1:g.24178637A>G GRCh37
NC_000006.10:g.24286616A>G NCBI36
NG_012829.1:g.184644T>C
NG_012829.2:g.209884T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378454.8:c.1247T>C MANE Select ENSP00000367715.3:p.Leu416Pro
ENST00000378450.6:c.506T>C ENSP00000367711.3:p.Leu169Pro
ENST00000378454.7:c.1247T>C ENSP00000367715.3:p.Leu416Pro
NM_001195610.1:c.1247T>C NP_001182539.1:p.Leu416Pro
NM_016356.4:c.1247T>C NP_057440.2:p.Leu416Pro
NM_016356.5:c.1247T>C MANE Select NP_057440.2:p.Leu416Pro
NM_001195610.2:c.1247T>C NP_001182539.1:p.Leu416Pro
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