Canonical Allele Identifier: CA2839250463

Gene: CDKN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968154A>C , CM000671.2:g.21968154A>C	GRCh38
NC_000009.11:g.21968153A>C , CM000671.1:g.21968153A>C	GRCh37
NC_000009.10:g.21958153A>C	NCBI36
NG_007485.1:g.31338T>G , LRG_11:g.31338T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*75T>G MANE Select	ENSP00000307101.5:n.*75T>G
ENST00000404796.3:c.348-61279A>C	ENSP00000385916.2:n.348-61279A>C
ENST00000579755.2:c.*190T>G MANE Plus Clinical	ENSP00000462950.1:n.*190T>G
ENST00000304494.9:c.*75T>G	ENSP00000307101.5:n.*75T>G
ENST00000361570.4:c.*75T>G	ENSP00000355153.4:n.*75T>G
ENST00000404796.2:c.348-61279A>C	ENSP00000385916.2:n.348-61279A>C
ENST00000498124.1:c.*239T>G	ENSP00000418915.1:n.*239T>G
ENST00000498628.6:c.*75T>G	ENSP00000467857.1:n.*75T>G
ENST00000530628.2:c.*116T>G	ENSP00000432664.2:n.*116T>G
ENST00000578845.2:c.*75T>G	ENSP00000467390.1:n.*75T>G
ENST00000579122.1:c.*55T>G	ENSP00000464202.1:n.*55T>G
ENST00000579755.1:c.*190T>G	ENSP00000462950.1:n.*190T>G
NM_000077.4:c.*75T>G , LRG_11t1:c.*75T>G	NP_000068.1:n.*75T>G
NM_001195132.1:c.*239T>G	NP_001182061.1:n.*239T>G
NM_058195.3:c.*190T>G , LRG_11t2:c.*190T>G	NP_478102.2:n.*190T>G
NM_058197.4:c.820T>G	NP_478104.2:n.820T>G
XM_005251343.1:c.*75T>G	XP_005251400.1:n.*75T>G
XM_011517679.1:c.*75T>G	XP_011515981.1:n.*75T>G
NM_001363763.1:c.*75T>G	NP_001350692.1:n.*75T>G
NM_001363763.2:c.*75T>G	NP_001350692.1:n.*75T>G
NM_000077.5:c.*75T>G MANE Select	NP_000068.1:n.*75T>G
NM_001195132.2:c.*239T>G	NP_001182061.1:n.*239T>G
NM_058195.4:c.*190T>G MANE Plus Clinical	NP_478102.2:n.*190T>G
NM_058197.5:c.*469T>G	NP_478104.2:n.*469T>G