Canonical Allele Identifier: CA5012328

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1376569
• ClinVar RCV Id: RCV001885992 ; RCV002343952
• dbSNP Id: rs765702324
• ExAC: 9:21974773 C / T
• gnomAD v2: 9-21974773-C-T
• gnomAD v3: 9-21974774-C-T
• gnomAD v4: 9-21974774-C-T
• MyVariant Identifiers: chr9:g.21974773C>T (hg19) ; chr9:g.21974774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974774C>T , CM000671.2:g.21974774C>T	GRCh38
NC_000009.11:g.21974773C>T , CM000671.1:g.21974773C>T	GRCh37
NC_000009.10:g.21964773C>T	NCBI36
NG_007485.1:g.24718G>A , LRG_11:g.24718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.54G>A MANE Select	ENSP00000307101.5:p.Thr18=
ENST00000404796.3:c.348-54659C>T	ENSP00000385916.2:n.348-54659C>T
ENST00000579755.2:c.194-3566G>A MANE Plus Clinical	ENSP00000462950.1:n.194-3566G>A
ENST00000304494.9:c.54G>A	ENSP00000307101.5:p.Thr18=
ENST00000361570.4:c.194-3566G>A	ENSP00000355153.4:n.194-3566G>A
ENST00000380151.3:c.54G>A	ENSP00000369496.3:p.Thr18=
ENST00000404796.2:c.348-54659C>T	ENSP00000385916.2:n.348-54659C>T
ENST00000494262.5:c.-3-3566G>A	ENSP00000464952.1:n.-3-3566G>A
ENST00000498124.1:c.54G>A	ENSP00000418915.1:p.Thr18=
ENST00000498628.6:c.-3-3566G>A	ENSP00000467857.1:n.-3-3566G>A
ENST00000530628.2:c.194-3566G>A	ENSP00000432664.2:n.194-3566G>A
ENST00000579122.1:c.54G>A	ENSP00000464202.1:p.Thr18=
ENST00000579755.1:c.194-3566G>A	ENSP00000462950.1:n.194-3566G>A
NM_000077.4:c.54G>A , LRG_11t1:c.54G>A	NP_000068.1:p.Thr18=
NM_001195132.1:c.54G>A	NP_001182061.1:p.Thr18=
NM_058195.3:c.194-3566G>A , LRG_11t2:c.194-3566G>A	NP_478102.2:n.194-3566G>A
NM_058197.4:c.54G>A	NP_478104.2:p.Thr18=
XM_011517675.1:c.54G>A	XP_011515977.1:p.Thr18=
XM_011517676.1:c.54G>A	XP_011515978.1:p.Thr18=
XM_011517679.1:c.-3-3566G>A	XP_011515981.1:n.-3-3566G>A
XR_929159.1:n.455G>A
XR_929161.1:n.341-3566G>A
XR_929162.1:n.341-3566G>A
XR_929163.1:n.290-3566G>A
NM_001363763.1:c.-3-3566G>A	NP_001350692.1:n.-3-3566G>A
XM_011517675.2:c.54G>A	XP_011515977.1:p.Thr18=
XM_011517676.2:c.54G>A	XP_011515978.1:p.Thr18=
XR_929159.2:n.384G>A
NM_001363763.2:c.-3-3566G>A	NP_001350692.1:n.-3-3566G>A
NM_000077.5:c.54G>A MANE Select	NP_000068.1:p.Thr18=
NM_001195132.2:c.54G>A	NP_001182061.1:p.Thr18=
NM_058195.4:c.194-3566G>A MANE Plus Clinical	NP_478102.2:n.194-3566G>A
NM_058197.5:c.54G>A	NP_478104.2:p.Thr18=