Canonical Allele Identifier: CA336186

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 215633
• ClinVar RCV Id: RCV000196146 ; RCV000581534 ; RCV000762555
• dbSNP Id: rs749753811
• ExAC: 9:21968231 A / G
• gnomAD v2: 9-21968231-A-G
• gnomAD v3: 9-21968232-A-G
• gnomAD v4: 9-21968232-A-G
• MyVariant Identifiers: chr9:g.21968231A>G (hg19) ; chr9:g.21968232A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968232A>G , CM000671.2:g.21968232A>G	GRCh38
NC_000009.11:g.21968231A>G , CM000671.1:g.21968231A>G	GRCh37
NC_000009.10:g.21958231A>G	NCBI36
NG_007485.1:g.31260T>C , LRG_11:g.31260T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.468T>C MANE Select	ENSP00000307101.5:p.Asp156=
ENST00000404796.3:c.348-61201A>G	ENSP00000385916.2:n.348-61201A>G
ENST00000579755.2:c.*112T>C MANE Plus Clinical	ENSP00000462950.1:n.*112T>C
ENST00000304494.9:c.468T>C	ENSP00000307101.5:p.Asp156=
ENST00000361570.4:c.510T>C	ENSP00000355153.4:p.Asp170=
ENST00000380151.3:c.742T>C	ENSP00000369496.3:n.742T>C
ENST00000404796.2:c.348-61201A>G	ENSP00000385916.2:n.348-61201A>G
ENST00000494262.5:c.315T>C	ENSP00000464952.1:p.Asp105=
ENST00000498124.1:c.*161T>C	ENSP00000418915.1:n.*161T>C
ENST00000498628.6:c.315T>C	ENSP00000467857.1:p.Asp105=
ENST00000530628.2:c.*38T>C	ENSP00000432664.2:n.*38T>C
ENST00000578845.2:c.315T>C	ENSP00000467390.1:p.Asp105=
ENST00000579122.1:c.394T>C	ENSP00000464202.1:p.Leu132=
ENST00000579755.1:c.*112T>C	ENSP00000462950.1:n.*112T>C
NM_000077.4:c.468T>C , LRG_11t1:c.468T>C	NP_000068.1:p.Asp156=
NM_001195132.1:c.*161T>C	NP_001182061.1:n.*161T>C
NM_058195.3:c.*112T>C , LRG_11t2:c.*112T>C	NP_478102.2:n.*112T>C
NM_058197.4:c.742T>C	NP_478104.2:n.742T>C
XM_005251343.1:c.315T>C	XP_005251400.1:p.Asp105=
XM_011517679.1:c.315T>C	XP_011515981.1:p.Asp105=
NM_001363763.1:c.315T>C	NP_001350692.1:p.Asp105=
NM_001363763.2:c.315T>C	NP_001350692.1:p.Asp105=
NM_000077.5:c.468T>C MANE Select	NP_000068.1:p.Asp156=
NM_001195132.2:c.*161T>C	NP_001182061.1:n.*161T>C
NM_058195.4:c.*112T>C MANE Plus Clinical	NP_478102.2:n.*112T>C
NM_058197.5:c.*391T>C	NP_478104.2:n.*391T>C