Canonical Allele Identifier: CA190730408
Gene: CDKN2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 532294
ClinVar RCV Id: RCV000638996
dbSNP Id: rs104894095

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971200C>T , CM000671.2:g.21971200C>T GRCh38
NC_000009.11:g.21971199C>T , CM000671.1:g.21971199C>T GRCh37
NC_000009.10:g.21961199C>T NCBI36
NG_007485.1:g.28292G>A , LRG_11:g.28292G>A

Transcript Alleles

HGVS Amino-acid change
NM_000077.4:c.159G>A , LRG_11t1:c.159G>A NP_000068.1:p.Met53Ile
NM_001195132.1:c.159G>A VV NP_001182061.1:p.Met53Ile
NM_058195.3:c.202G>A , LRG_11t2:c.202G>A NP_478102.2:p.Asp68Asn
NM_058197.4:n.433G>A VV NP_478104.2:p.=
XM_005251343.1:c.6G>A XP_005251400.1:p.Met2Ile
XM_011517675.1:c.159G>A XP_011515977.1:p.Met53Ile
XM_011517676.1:c.159G>A XP_011515978.1:p.Met53Ile
XM_011517679.1:c.6G>A XP_011515981.1:p.Met2Ile
XR_929159.1:n.560G>A
XR_929161.1:n.349G>A
XR_929162.1:n.349G>A
XR_929163.1:n.298G>A
XR_929164.1:n.81G>A
NM_001363763.1:c.6G>A VV NP_001350692.1:p.Met2Ile
XM_011517675.2:c.159G>A XP_011515977.1:p.Met53Ile
XM_011517676.2:c.159G>A XP_011515978.1:p.Met53Ile
XR_929159.2:n.489G>A
ENST00000304494.9:c.159G>A ENSP00000307101.5:p.Met53Ile
ENST00000361570.4:c.202G>A ENSP00000355153.4:p.Asp68Asn
ENST00000380150.2:n.133G>A
ENST00000380151.3:n.433G>A ENSP00000369496.3:p.=
ENST00000404796.2:c.348-58233C>T ENSP00000385916.2:p.=
ENST00000479692.2:c.6G>A ENSP00000466887.1:p.Met2Ile
ENST00000494262.5:c.6G>A ENSP00000464952.1:p.Met2Ile
ENST00000497750.1:c.6G>A ENSP00000468510.1:p.Met2Ile
ENST00000498124.1:c.159G>A ENSP00000418915.1:p.Met53Ile
ENST00000498628.6:c.6G>A ENSP00000467857.1:p.Met2Ile
ENST00000530628.2:c.202G>A ENSP00000432664.2:p.Asp68Asn
ENST00000578845.2:c.6G>A ENSP00000467390.1:p.Met2Ile
ENST00000579122.1:c.159G>A ENSP00000464202.1:p.Met53Ile
ENST00000579755.1:c.202G>A ENSP00000462950.1:p.Asp68Asn