Canonical Allele Identifier: CA2579316461
Gene: CDKN2A HGNC NCBI

Linked Data

gnomAD v4: 9-21974957-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21974957T>C , CM000671.2:g.21974957T>C GRCh38
NC_000009.11:g.21974956T>C , CM000671.1:g.21974956T>C GRCh37
NC_000009.10:g.21964956T>C NCBI36
NG_007485.1:g.24535A>G , LRG_11:g.24535A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-54476T>C ENSP00000385916.2:n.348-54476T>C
ENST00000579755.2:c.194-3749A>G MANE Plus Clinical ENSP00000462950.1:n.194-3749A>G
ENST00000304494.9:c.-130A>G ENSP00000307101.5:n.-130A>G
ENST00000361570.4:c.194-3749A>G ENSP00000355153.4:n.194-3749A>G
ENST00000404796.2:c.348-54476T>C ENSP00000385916.2:n.348-54476T>C
ENST00000494262.5:c.-3-3749A>G ENSP00000464952.1:n.-3-3749A>G
ENST00000498628.6:c.-3-3749A>G ENSP00000467857.1:n.-3-3749A>G
ENST00000530628.2:c.194-3749A>G ENSP00000432664.2:n.194-3749A>G
ENST00000579755.1:c.194-3749A>G ENSP00000462950.1:n.194-3749A>G
NM_000077.4:c.-130A>G , LRG_11t1:c.-130A>G NP_000068.1:n.-130A>G
NM_001195132.1:c.-130A>G NP_001182061.1:n.-130A>G
NM_058195.3:c.194-3749A>G , LRG_11t2:c.194-3749A>G NP_478102.2:n.194-3749A>G
XM_011517675.1:c.-130A>G XP_011515977.1:n.-130A>G
XM_011517676.1:c.-130A>G XP_011515978.1:n.-130A>G
XM_011517679.1:c.-3-3749A>G XP_011515981.1:n.-3-3749A>G
XR_929159.1:n.272A>G
XR_929161.1:n.341-3749A>G
XR_929162.1:n.341-3749A>G
XR_929163.1:n.290-3749A>G
NM_001363763.1:c.-3-3749A>G NP_001350692.1:n.-3-3749A>G
XM_011517675.2:c.-130A>G XP_011515977.1:n.-130A>G
XM_011517676.2:c.-130A>G XP_011515978.1:n.-130A>G
XR_929159.2:n.201A>G
NM_001363763.2:c.-3-3749A>G NP_001350692.1:n.-3-3749A>G
NM_058195.4:c.194-3749A>G MANE Plus Clinical NP_478102.2:n.194-3749A>G