Canonical Allele Identifier: CA373085076

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 491579
• ClinVar RCV Id: RCV000583672 ; RCV001205510 ; RCV001269230
• dbSNP Id: rs1554653284
• gnomAD v4: 9-21968239-A-T
• MyVariant Identifiers: chr9:g.21968238A>T (hg19) ; chr9:g.21968239A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968239A>T , CM000671.2:g.21968239A>T	GRCh38
NC_000009.11:g.21968238A>T , CM000671.1:g.21968238A>T	GRCh37
NC_000009.10:g.21958238A>T	NCBI36
NG_007485.1:g.31253T>A , LRG_11:g.31253T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.461T>A MANE Select	ENSP00000307101.5:p.Ile154Asn
ENST00000404796.3:c.348-61194A>T	ENSP00000385916.2:n.348-61194A>T
ENST00000579755.2:c.*105T>A MANE Plus Clinical	ENSP00000462950.1:n.*105T>A
ENST00000304494.9:c.461T>A	ENSP00000307101.5:p.Ile154Asn
ENST00000361570.4:c.503T>A	ENSP00000355153.4:p.Ile168Asn
ENST00000380151.3:c.735T>A	ENSP00000369496.3:n.735T>A
ENST00000404796.2:c.348-61194A>T	ENSP00000385916.2:n.348-61194A>T
ENST00000494262.5:c.308T>A	ENSP00000464952.1:p.Ile103Asn
ENST00000498124.1:c.*154T>A	ENSP00000418915.1:n.*154T>A
ENST00000498628.6:c.308T>A	ENSP00000467857.1:p.Ile103Asn
ENST00000530628.2:c.*31T>A	ENSP00000432664.2:n.*31T>A
ENST00000578845.2:c.308T>A	ENSP00000467390.1:p.Ile103Asn
ENST00000579122.1:c.387T>A	ENSP00000464202.1:p.His129Gln
ENST00000579755.1:c.*105T>A	ENSP00000462950.1:n.*105T>A
NM_000077.4:c.461T>A , LRG_11t1:c.461T>A	NP_000068.1:p.Ile154Asn
NM_001195132.1:c.*154T>A	NP_001182061.1:n.*154T>A
NM_058195.3:c.*105T>A , LRG_11t2:c.*105T>A	NP_478102.2:n.*105T>A
NM_058197.4:c.735T>A	NP_478104.2:n.735T>A
XM_005251343.1:c.308T>A	XP_005251400.1:p.Ile103Asn
XM_011517679.1:c.308T>A	XP_011515981.1:p.Ile103Asn
NM_001363763.1:c.308T>A	NP_001350692.1:p.Ile103Asn
NM_001363763.2:c.308T>A	NP_001350692.1:p.Ile103Asn
NM_000077.5:c.461T>A MANE Select	NP_000068.1:p.Ile154Asn
NM_001195132.2:c.*154T>A	NP_001182061.1:n.*154T>A
NM_058195.4:c.*105T>A MANE Plus Clinical	NP_478102.2:n.*105T>A
NM_058197.5:c.*384T>A	NP_478104.2:n.*384T>A