Canonical Allele Identifier: CA12385161

Gene: KAAG1 DCDC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24357974G>A , CM000668.2:g.24357974G>A	GRCh38
NC_000006.11:g.24358202G>A , CM000668.1:g.24358202G>A	GRCh37
NC_000006.10:g.24466181G>A	NCBI36
NG_012829.1:g.5079C>T
NG_012829.2:g.30319C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016356.5:c.-224C>T (DCDC2) MANE Select	NP_057440.2:n.-224C>T
ENST00000378454.8:c.-224C>T (DCDC2) MANE Select	ENSP00000367715.3:n.-224C>T
NM_001195610.1:c.-97-127C>T (DCDC2)	NP_001182539.1:n.-97-127C>T
NM_001195610.2:c.-97-127C>T (DCDC2)	NP_001182539.1:n.-97-127C>T
NM_016356.4:c.-224C>T (DCDC2)	NP_057440.2:n.-224C>T
NM_181337.3:c.*80G>A (KAAG1)	NP_851854.1:n.*80G>A
NM_181337.4:c.*80G>A (KAAG1)	NP_851854.1:n.*80G>A
NR_174942.1:n.1072G>A (KAAG1)
ENST00000274766.1:c.*80G>A (KAAG1)	ENSP00000274766.1:n.*80G>A
ENST00000274766.2:c.*80G>A (KAAG1)	ENSP00000274766.1:n.*80G>A
ENST00000378454.7:c.-224C>T (DCDC2)	ENSP00000367715.3:n.-224C>T