Canonical Allele Identifier: CA5012123

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 390474
• ClinVar RCV Id: RCV001176320 ; RCV001698302
• dbSNP Id: rs763795863
• ExAC: 9:21968220 T / A
• gnomAD v2: 9-21968220-T-A
• gnomAD v4: 9-21968221-T-A
• MyVariant Identifiers: chr9:g.21968220T>A (hg19) ; chr9:g.21968221T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968221T>A , CM000671.2:g.21968221T>A	GRCh38
NC_000009.11:g.21968220T>A , CM000671.1:g.21968220T>A	GRCh37
NC_000009.10:g.21958220T>A	NCBI36
NG_007485.1:g.31271A>T , LRG_11:g.31271A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*8A>T MANE Select	ENSP00000307101.5:n.*8A>T
ENST00000404796.3:c.348-61212T>A	ENSP00000385916.2:n.348-61212T>A
ENST00000579755.2:c.*123A>T MANE Plus Clinical	ENSP00000462950.1:n.*123A>T
ENST00000304494.9:c.*8A>T	ENSP00000307101.5:n.*8A>T
ENST00000361570.4:c.*8A>T	ENSP00000355153.4:n.*8A>T
ENST00000380151.3:c.753A>T	ENSP00000369496.3:n.753A>T
ENST00000404796.2:c.348-61212T>A	ENSP00000385916.2:n.348-61212T>A
ENST00000494262.5:c.*8A>T	ENSP00000464952.1:n.*8A>T
ENST00000498124.1:c.*172A>T	ENSP00000418915.1:n.*172A>T
ENST00000498628.6:c.*8A>T	ENSP00000467857.1:n.*8A>T
ENST00000530628.2:c.*49A>T	ENSP00000432664.2:n.*49A>T
ENST00000578845.2:c.*8A>T	ENSP00000467390.1:n.*8A>T
ENST00000579122.1:c.405A>T	ENSP00000464202.1:p.Pro135=
ENST00000579755.1:c.*123A>T	ENSP00000462950.1:n.*123A>T
NM_000077.4:c.*8A>T , LRG_11t1:c.*8A>T	NP_000068.1:n.*8A>T
NM_001195132.1:c.*172A>T	NP_001182061.1:n.*172A>T
NM_058195.3:c.*123A>T , LRG_11t2:c.*123A>T	NP_478102.2:n.*123A>T
NM_058197.4:c.753A>T	NP_478104.2:n.753A>T
XM_005251343.1:c.*8A>T	XP_005251400.1:n.*8A>T
XM_011517679.1:c.*8A>T	XP_011515981.1:n.*8A>T
NM_001363763.1:c.*8A>T	NP_001350692.1:n.*8A>T
NM_001363763.2:c.*8A>T	NP_001350692.1:n.*8A>T
NM_000077.5:c.*8A>T MANE Select	NP_000068.1:n.*8A>T
NM_001195132.2:c.*172A>T	NP_001182061.1:n.*172A>T
NM_058195.4:c.*123A>T MANE Plus Clinical	NP_478102.2:n.*123A>T
NM_058197.5:c.*402A>T	NP_478104.2:n.*402A>T