Canonical Allele Identifier: CA373085850

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 2563906
• ClinVar RCV Id: RCV003306235
• dbSNP Id: rs730881680
• MyVariant Identifiers: chr9:g.21970924A>C (hg19) ; chr9:g.21970925A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970925A>C , CM000671.2:g.21970925A>C	GRCh38
NC_000009.11:g.21970924A>C , CM000671.1:g.21970924A>C	GRCh37
NC_000009.10:g.21960924A>C	NCBI36
NG_007485.1:g.28567T>G , LRG_11:g.28567T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.434T>G MANE Select	ENSP00000307101.5:p.Ile145Arg
ENST00000404796.3:c.348-58508A>C	ENSP00000385916.2:n.348-58508A>C
ENST00000579755.2:c.*78T>G MANE Plus Clinical	ENSP00000462950.1:n.*78T>G
ENST00000304494.9:c.434T>G	ENSP00000307101.5:p.Ile145Arg
ENST00000361570.4:c.476T>G	ENSP00000355153.4:p.Ile159Arg
ENST00000380150.2:n.408T>G
ENST00000380151.3:c.708T>G	ENSP00000369496.3:n.708T>G
ENST00000404796.2:c.348-58508A>C	ENSP00000385916.2:n.348-58508A>C
ENST00000479692.2:c.281T>G	ENSP00000466887.1:p.Ile94Arg
ENST00000494262.5:c.281T>G	ENSP00000464952.1:p.Ile94Arg
ENST00000497750.1:c.281T>G	ENSP00000468510.1:p.Ile94Arg
ENST00000498124.1:c.434T>G	ENSP00000418915.1:p.Ile145Arg
ENST00000498628.6:c.281T>G	ENSP00000467857.1:p.Ile94Arg
ENST00000530628.2:c.*27+51T>G	ENSP00000432664.2:n.*27+51T>G
ENST00000578845.2:c.281T>G	ENSP00000467390.1:p.Ile94Arg
ENST00000579122.1:c.383+51T>G	ENSP00000464202.1:n.383+51T>G
ENST00000579755.1:c.*78T>G	ENSP00000462950.1:n.*78T>G
NM_000077.4:c.434T>G , LRG_11t1:c.434T>G	NP_000068.1:p.Ile145Arg
NM_001195132.1:c.434T>G	NP_001182061.1:p.Ile145Arg
NM_058195.3:c.*78T>G , LRG_11t2:c.*78T>G	NP_478102.2:n.*78T>G
NM_058197.4:c.708T>G	NP_478104.2:n.708T>G
XM_005251343.1:c.281T>G	XP_005251400.1:p.Ile94Arg
XM_011517675.1:c.434T>G	XP_011515977.1:p.Ile145Arg
XM_011517676.1:c.434T>G	XP_011515978.1:p.Ile145Arg
XM_011517679.1:c.281T>G	XP_011515981.1:p.Ile94Arg
XR_929159.1:n.835T>G
XR_929161.1:n.624T>G
XR_929162.1:n.624T>G
XR_929163.1:n.573T>G
XR_929164.1:n.356T>G
NM_001363763.1:c.281T>G	NP_001350692.1:p.Ile94Arg
XM_011517675.2:c.434T>G	XP_011515977.1:p.Ile145Arg
XM_011517676.2:c.434T>G	XP_011515978.1:p.Ile145Arg
XR_929159.2:n.764T>G
NM_001363763.2:c.281T>G	NP_001350692.1:p.Ile94Arg
NM_000077.5:c.434T>G MANE Select	NP_000068.1:p.Ile145Arg
NM_001195132.2:c.434T>G	NP_001182061.1:p.Ile145Arg
NM_058195.4:c.*78T>G MANE Plus Clinical	NP_478102.2:n.*78T>G
NM_058197.5:c.*357T>G	NP_478104.2:n.*357T>G