Canonical Allele Identifier: CA448963067

Gene: DCDC2

Linked Data

• dbSNP Id: rs1347196636
• gnomAD v2: 6-24178605-G-A
• gnomAD v4: 6-24178377-G-A
• MyVariant Identifiers: chr6:g.24178605G>A (hg19) ; chr6:g.24178377G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24178377G>A , CM000668.2:g.24178377G>A	GRCh38
NC_000006.11:g.24178605G>A , CM000668.1:g.24178605G>A	GRCh37
NC_000006.10:g.24286584G>A	NCBI36
NG_012829.1:g.184676C>T
NG_012829.2:g.209916C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378454.8:c.1279C>T MANE Select	ENSP00000367715.3:p.Leu427=
ENST00000378450.6:c.538C>T	ENSP00000367711.3:p.Leu180=
ENST00000378454.7:c.1279C>T	ENSP00000367715.3:p.Leu427=
NM_001195610.1:c.1279C>T	NP_001182539.1:p.Leu427=
NM_016356.4:c.1279C>T	NP_057440.2:p.Leu427=
NM_016356.5:c.1279C>T MANE Select	NP_057440.2:p.Leu427=
NM_001195610.2:c.1279C>T	NP_001182539.1:p.Leu427=