Canonical Allele Identifier: CA3654795

Gene: DCDC2

Linked Data

• ClinVar Variation Id: 1546124
• ClinVar RCV Id: RCV002174825 ; RCV002494055
• dbSNP Id: rs200146922
• ExAC: 6:24302287 G / A
• gnomAD v2: 6-24302287-G-A
• gnomAD v3: 6-24302059-G-A
• gnomAD v4: 6-24302059-G-A
• MyVariant Identifiers: chr6:g.24302287G>A (hg19) ; chr6:g.24302287_24302288delinsAA (hg19) ; chr6:g.24302059G>A (hg38) ; chr6:g.24302059_24302060delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24302059G>A , CM000668.2:g.24302059G>A	GRCh38
NC_000006.11:g.24302287G>A , CM000668.1:g.24302287G>A	GRCh37
NC_000006.10:g.24410266G>A	NCBI36
NG_012829.1:g.60994C>T
NG_012829.2:g.86234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378454.8:c.349-15C>T MANE Select	ENSP00000367715.3:n.349-15C>T
ENST00000378454.7:c.349-15C>T	ENSP00000367715.3:n.349-15C>T
NM_001195610.1:c.349-15C>T	NP_001182539.1:n.349-15C>T
NM_016356.4:c.349-15C>T	NP_057440.2:n.349-15C>T
NM_016356.5:c.349-15C>T MANE Select	NP_057440.2:n.349-15C>T
NM_001195610.2:c.349-15C>T	NP_001182539.1:n.349-15C>T