Canonical Allele Identifier: CA363278918

Gene: KAAG1 DCDC2

Linked Data

• COSMIC: COSM6225531
• MyVariant Identifiers: chr6:g.24357758A>G (hg19) ; chr6:g.24357530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24357530A>G , CM000668.2:g.24357530A>G	GRCh38
NC_000006.11:g.24357758A>G , CM000668.1:g.24357758A>G	GRCh37
NC_000006.10:g.24465737A>G	NCBI36
NG_012829.1:g.5523T>C
NG_012829.2:g.30763T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274766.2:c.-110A>G (KAAG1)	ENSP00000274766.1:n.-110A>G
ENST00000378454.8:c.221T>C (DCDC2) MANE Select	ENSP00000367715.3:p.Ile74Thr
ENST00000274766.1:c.-110A>G (KAAG1)	ENSP00000274766.1:n.-110A>G
ENST00000378454.7:c.221T>C (DCDC2)	ENSP00000367715.3:p.Ile74Thr
ENST00000436313.1:c.124T>C (DCDC2)
NM_001195610.1:c.221T>C (DCDC2)	NP_001182539.1:p.Ile74Thr
NM_016356.4:c.221T>C (DCDC2)	NP_057440.2:p.Ile74Thr
NM_181337.3:c.-110A>G (KAAG1)	NP_851854.1:n.-110A>G
NM_016356.5:c.221T>C (DCDC2) MANE Select	NP_057440.2:p.Ile74Thr
NM_181337.4:c.-110A>G (KAAG1)	NP_851854.1:n.-110A>G
NM_001195610.2:c.221T>C (DCDC2)	NP_001182539.1:p.Ile74Thr
NR_174942.1:n.628A>G (KAAG1)