Canonical Allele Identifier: CA5012121

Gene: CDKN2A

Linked Data

• dbSNP Id: rs752197727
• ExAC: 9:21968204 T / A
• gnomAD v2: 9-21968204-T-A
• gnomAD v3: 9-21968205-T-A
• gnomAD v4: 9-21968205-T-A
• MyVariant Identifiers: chr9:g.21968204T>A (hg19) ; chr9:g.21968205T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968205T>A , CM000671.2:g.21968205T>A	GRCh38
NC_000009.11:g.21968204T>A , CM000671.1:g.21968204T>A	GRCh37
NC_000009.10:g.21958204T>A	NCBI36
NG_007485.1:g.31287A>T , LRG_11:g.31287A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*24A>T MANE Select	ENSP00000307101.5:n.*24A>T
ENST00000404796.3:c.348-61228T>A	ENSP00000385916.2:n.348-61228T>A
ENST00000579755.2:c.*139A>T MANE Plus Clinical	ENSP00000462950.1:n.*139A>T
ENST00000304494.9:c.*24A>T	ENSP00000307101.5:n.*24A>T
ENST00000361570.4:c.*24A>T	ENSP00000355153.4:n.*24A>T
ENST00000380151.3:c.769A>T	ENSP00000369496.3:n.769A>T
ENST00000404796.2:c.348-61228T>A	ENSP00000385916.2:n.348-61228T>A
ENST00000494262.5:c.*24A>T	ENSP00000464952.1:n.*24A>T
ENST00000498124.1:c.*188A>T	ENSP00000418915.1:n.*188A>T
ENST00000498628.6:c.*24A>T	ENSP00000467857.1:n.*24A>T
ENST00000530628.2:c.*65A>T	ENSP00000432664.2:n.*65A>T
ENST00000578845.2:c.*24A>T	ENSP00000467390.1:n.*24A>T
ENST00000579122.1:c.*4A>T	ENSP00000464202.1:n.*4A>T
ENST00000579755.1:c.*139A>T	ENSP00000462950.1:n.*139A>T
NM_000077.4:c.*24A>T , LRG_11t1:c.*24A>T	NP_000068.1:n.*24A>T
NM_001195132.1:c.*188A>T	NP_001182061.1:n.*188A>T
NM_058195.3:c.*139A>T , LRG_11t2:c.*139A>T	NP_478102.2:n.*139A>T
NM_058197.4:c.769A>T	NP_478104.2:n.769A>T
XM_005251343.1:c.*24A>T	XP_005251400.1:n.*24A>T
XM_011517679.1:c.*24A>T	XP_011515981.1:n.*24A>T
NM_001363763.1:c.*24A>T	NP_001350692.1:n.*24A>T
NM_001363763.2:c.*24A>T	NP_001350692.1:n.*24A>T
NM_000077.5:c.*24A>T MANE Select	NP_000068.1:n.*24A>T
NM_001195132.2:c.*188A>T	NP_001182061.1:n.*188A>T
NM_058195.4:c.*139A>T MANE Plus Clinical	NP_478102.2:n.*139A>T
NM_058197.5:c.*418A>T	NP_478104.2:n.*418A>T