Canonical Allele Identifier: CA464100093

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 921245
• ClinVar RCV Id: RCV001180514 ; RCV002558958 ; RCV003973128
• dbSNP Id: rs768280139
• MyVariant Identifiers: chr9:g.21970914C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970915C>G , CM000671.2:g.21970915C>G	GRCh38
NC_000009.11:g.21970914C>G , CM000671.1:g.21970914C>G	GRCh37
NC_000009.10:g.21960914C>G	NCBI36
NG_007485.1:g.28577G>C , LRG_11:g.28577G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.444G>C MANE Select	ENSP00000307101.5:p.Ala148=
ENST00000404796.3:c.348-58518C>G	ENSP00000385916.2:n.348-58518C>G
ENST00000579755.2:c.*88G>C MANE Plus Clinical	ENSP00000462950.1:n.*88G>C
ENST00000304494.9:c.444G>C	ENSP00000307101.5:p.Ala148=
ENST00000361570.4:c.486G>C	ENSP00000355153.4:p.Ala162=
ENST00000380150.2:n.418G>C
ENST00000380151.3:c.718G>C	ENSP00000369496.3:n.718G>C
ENST00000404796.2:c.348-58518C>G	ENSP00000385916.2:n.348-58518C>G
ENST00000479692.2:c.291G>C	ENSP00000466887.1:p.Ala97=
ENST00000494262.5:c.291G>C	ENSP00000464952.1:p.Ala97=
ENST00000497750.1:c.291G>C	ENSP00000468510.1:p.Ala97=
ENST00000498124.1:c.444G>C	ENSP00000418915.1:p.Ala148=
ENST00000498628.6:c.291G>C	ENSP00000467857.1:p.Ala97=
ENST00000530628.2:c.*27+61G>C	ENSP00000432664.2:n.*27+61G>C
ENST00000578845.2:c.291G>C	ENSP00000467390.1:p.Ala97=
ENST00000579122.1:c.383+61G>C	ENSP00000464202.1:n.383+61G>C
ENST00000579755.1:c.*88G>C	ENSP00000462950.1:n.*88G>C
NM_000077.4:c.444G>C , LRG_11t1:c.444G>C	NP_000068.1:p.Ala148=
NM_001195132.1:c.444G>C	NP_001182061.1:p.Ala148=
NM_058195.3:c.*88G>C , LRG_11t2:c.*88G>C	NP_478102.2:n.*88G>C
NM_058197.4:c.718G>C	NP_478104.2:n.718G>C
XM_005251343.1:c.291G>C	XP_005251400.1:p.Ala97=
XM_011517675.1:c.444G>C	XP_011515977.1:p.Ala148=
XM_011517676.1:c.444G>C	XP_011515978.1:p.Ala148=
XM_011517679.1:c.291G>C	XP_011515981.1:p.Ala97=
XR_929159.1:n.845G>C
XR_929161.1:n.634G>C
XR_929162.1:n.634G>C
XR_929163.1:n.583G>C
XR_929164.1:n.366G>C
NM_001363763.1:c.291G>C	NP_001350692.1:p.Ala97=
XM_011517675.2:c.444G>C	XP_011515977.1:p.Ala148=
XM_011517676.2:c.444G>C	XP_011515978.1:p.Ala148=
XR_929159.2:n.774G>C
NM_001363763.2:c.291G>C	NP_001350692.1:p.Ala97=
NM_000077.5:c.444G>C MANE Select	NP_000068.1:p.Ala148=
NM_001195132.2:c.444G>C	NP_001182061.1:p.Ala148=
NM_058195.4:c.*88G>C MANE Plus Clinical	NP_478102.2:n.*88G>C
NM_058197.5:c.*367G>C	NP_478104.2:n.*367G>C