Canonical Allele Identifier: CA16602819
Gene: CDKN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971112G>C , CM000671.2:g.21971112G>C GRCh38
NC_000009.11:g.21971111G>C , CM000671.1:g.21971111G>C GRCh37
NC_000009.10:g.21961111G>C NCBI36
NG_007485.1:g.28380C>G , LRG_11:g.28380C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.247C>G MANE Select ENSP00000307101.5:p.His83Asp
ENST00000404796.3:c.348-58321G>C ENSP00000385916.2:n.348-58321G>C
ENST00000579755.2:c.290C>G MANE Plus Clinical ENSP00000462950.1:p.Ala97Gly
ENST00000304494.9:c.247C>G ENSP00000307101.5:p.His83Asp
ENST00000361570.4:c.289C>G ENSP00000355153.4:p.His97Asp
ENST00000380150.2:n.221C>G
ENST00000380151.3:c.521C>G ENSP00000369496.3:n.521C>G
ENST00000404796.2:c.348-58321G>C ENSP00000385916.2:n.348-58321G>C
ENST00000479692.2:c.94C>G ENSP00000466887.1:p.His32Asp
ENST00000494262.5:c.94C>G ENSP00000464952.1:p.His32Asp
ENST00000497750.1:c.94C>G ENSP00000468510.1:p.His32Asp
ENST00000498124.1:c.247C>G ENSP00000418915.1:p.His83Asp
ENST00000498628.6:c.94C>G ENSP00000467857.1:p.His32Asp
ENST00000530628.2:c.290C>G ENSP00000432664.2:p.Ala97Gly
ENST00000578845.2:c.94C>G ENSP00000467390.1:p.His32Asp
ENST00000579122.1:c.247C>G ENSP00000464202.1:p.His83Asp
ENST00000579755.1:c.290C>G ENSP00000462950.1:p.Ala97Gly
NM_000077.4:c.247C>G , LRG_11t1:c.247C>G NP_000068.1:p.His83Asp
NM_001195132.1:c.247C>G NP_001182061.1:p.His83Asp
NM_058195.3:c.290C>G , LRG_11t2:c.290C>G NP_478102.2:p.Ala97Gly
NM_058197.4:c.521C>G NP_478104.2:n.521C>G
XM_005251343.1:c.94C>G XP_005251400.1:p.His32Asp
XM_011517675.1:c.247C>G XP_011515977.1:p.His83Asp
XM_011517676.1:c.247C>G XP_011515978.1:p.His83Asp
XM_011517679.1:c.94C>G XP_011515981.1:p.His32Asp
XR_929159.1:n.648C>G
XR_929161.1:n.437C>G
XR_929162.1:n.437C>G
XR_929163.1:n.386C>G
XR_929164.1:n.169C>G
NM_001363763.1:c.94C>G NP_001350692.1:p.His32Asp
XM_011517675.2:c.247C>G XP_011515977.1:p.His83Asp
XM_011517676.2:c.247C>G XP_011515978.1:p.His83Asp
XR_929159.2:n.577C>G
NM_001363763.2:c.94C>G NP_001350692.1:p.His32Asp
NM_000077.5:c.247C>G MANE Select NP_000068.1:p.His83Asp
NM_001195132.2:c.247C>G NP_001182061.1:p.His83Asp
NM_058195.4:c.290C>G MANE Plus Clinical NP_478102.2:p.Ala97Gly
NM_058197.5:c.*170C>G NP_478104.2:n.*170C>G