Canonical Allele Identifier: CA5012210

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 414092
• ClinVar RCV Id: RCV000477469 ; RCV000480893 ; RCV000570104 ; RCV003321621
• dbSNP Id: rs374984975
• ExAC: 9:21971160 G / A
• gnomAD v2: 9-21971160-G-A
• gnomAD v3: 9-21971161-G-A
• gnomAD v4: 9-21971161-G-A
• MyVariant Identifiers: chr9:g.21971160G>A (hg19) ; chr9:g.21971161G>A (hg38)
• PubMed: PMID:16374456

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971161G>A , CM000671.2:g.21971161G>A	GRCh38
NC_000009.11:g.21971160G>A , CM000671.1:g.21971160G>A	GRCh37
NC_000009.10:g.21961160G>A	NCBI36
NG_007485.1:g.28331C>T , LRG_11:g.28331C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.198C>T MANE Select	ENSP00000307101.5:p.His66=
ENST00000404796.3:c.348-58272G>A	ENSP00000385916.2:n.348-58272G>A
ENST00000579755.2:c.241C>T MANE Plus Clinical	ENSP00000462950.1:p.Arg81Trp
ENST00000304494.9:c.198C>T	ENSP00000307101.5:p.His66=
ENST00000361570.4:c.241C>T	ENSP00000355153.4:p.Arg81Trp
ENST00000380150.2:n.172C>T
ENST00000380151.3:c.472C>T	ENSP00000369496.3:n.472C>T
ENST00000404796.2:c.348-58272G>A	ENSP00000385916.2:n.348-58272G>A
ENST00000479692.2:c.45C>T	ENSP00000466887.1:p.His15=
ENST00000494262.5:c.45C>T	ENSP00000464952.1:p.His15=
ENST00000497750.1:c.45C>T	ENSP00000468510.1:p.His15=
ENST00000498124.1:c.198C>T	ENSP00000418915.1:p.His66=
ENST00000498628.6:c.45C>T	ENSP00000467857.1:p.His15=
ENST00000530628.2:c.241C>T	ENSP00000432664.2:p.Arg81Trp
ENST00000578845.2:c.45C>T	ENSP00000467390.1:p.His15=
ENST00000579122.1:c.198C>T	ENSP00000464202.1:p.His66=
ENST00000579755.1:c.241C>T	ENSP00000462950.1:p.Arg81Trp
NM_000077.4:c.198C>T , LRG_11t1:c.198C>T	NP_000068.1:p.His66=
NM_001195132.1:c.198C>T	NP_001182061.1:p.His66=
NM_058195.3:c.241C>T , LRG_11t2:c.241C>T	NP_478102.2:p.Arg81Trp
NM_058197.4:c.472C>T	NP_478104.2:n.472C>T
XM_005251343.1:c.45C>T	XP_005251400.1:p.His15=
XM_011517675.1:c.198C>T	XP_011515977.1:p.His66=
XM_011517676.1:c.198C>T	XP_011515978.1:p.His66=
XM_011517679.1:c.45C>T	XP_011515981.1:p.His15=
XR_929159.1:n.599C>T
XR_929161.1:n.388C>T
XR_929162.1:n.388C>T
XR_929163.1:n.337C>T
XR_929164.1:n.120C>T
NM_001363763.1:c.45C>T	NP_001350692.1:p.His15=
XM_011517675.2:c.198C>T	XP_011515977.1:p.His66=
XM_011517676.2:c.198C>T	XP_011515978.1:p.His66=
XR_929159.2:n.528C>T
NM_001363763.2:c.45C>T	NP_001350692.1:p.His15=
NM_000077.5:c.198C>T MANE Select	NP_000068.1:p.His66=
NM_001195132.2:c.198C>T	NP_001182061.1:p.His66=
NM_058195.4:c.241C>T MANE Plus Clinical	NP_478102.2:p.Arg81Trp
NM_058197.5:c.*121C>T	NP_478104.2:n.*121C>T