Canonical Allele Identifier: CA587106883
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs1480409258
gnomAD v2: 9-21974615-G-A
gnomAD v3: 9-21974616-G-A
gnomAD v4: 9-21974616-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21974616G>A , CM000671.2:g.21974616G>A GRCh38
NC_000009.11:g.21974615G>A , CM000671.1:g.21974615G>A GRCh37
NC_000009.10:g.21964615G>A NCBI36
NG_007485.1:g.24876C>T , LRG_11:g.24876C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.150+62C>T MANE Select ENSP00000307101.5:n.150+62C>T
ENST00000404796.3:c.348-54817G>A ENSP00000385916.2:n.348-54817G>A
ENST00000579755.2:c.194-3408C>T MANE Plus Clinical ENSP00000462950.1:n.194-3408C>T
ENST00000304494.9:c.150+62C>T ENSP00000307101.5:n.150+62C>T
ENST00000361570.4:c.194-3408C>T ENSP00000355153.4:n.194-3408C>T
ENST00000380151.3:c.212C>T ENSP00000369496.3:p.Ala71Val
ENST00000404796.2:c.348-54817G>A ENSP00000385916.2:n.348-54817G>A
ENST00000494262.5:c.-3-3408C>T ENSP00000464952.1:n.-3-3408C>T
ENST00000498124.1:c.150+62C>T ENSP00000418915.1:n.150+62C>T
ENST00000498628.6:c.-3-3408C>T ENSP00000467857.1:n.-3-3408C>T
ENST00000530628.2:c.194-3408C>T ENSP00000432664.2:n.194-3408C>T
ENST00000579122.1:c.150+62C>T ENSP00000464202.1:n.150+62C>T
ENST00000579755.1:c.194-3408C>T ENSP00000462950.1:n.194-3408C>T
NM_000077.4:c.150+62C>T , LRG_11t1:c.150+62C>T NP_000068.1:n.150+62C>T
NM_001195132.1:c.150+62C>T NP_001182061.1:n.150+62C>T
NM_058195.3:c.194-3408C>T , LRG_11t2:c.194-3408C>T NP_478102.2:n.194-3408C>T
NM_058197.4:c.212C>T NP_478104.2:p.Ala71Val
XM_011517675.1:c.150+62C>T XP_011515977.1:n.150+62C>T
XM_011517676.1:c.150+62C>T XP_011515978.1:n.150+62C>T
XM_011517679.1:c.-3-3408C>T XP_011515981.1:n.-3-3408C>T
XR_929159.1:n.551+62C>T
XR_929161.1:n.341-3408C>T
XR_929162.1:n.341-3408C>T
XR_929163.1:n.290-3408C>T
NM_001363763.1:c.-3-3408C>T NP_001350692.1:n.-3-3408C>T
XM_011517675.2:c.150+62C>T XP_011515977.1:n.150+62C>T
XM_011517676.2:c.150+62C>T XP_011515978.1:n.150+62C>T
XR_929159.2:n.480+62C>T
NM_001363763.2:c.-3-3408C>T NP_001350692.1:n.-3-3408C>T
NM_000077.5:c.150+62C>T MANE Select NP_000068.1:n.150+62C>T
NM_001195132.2:c.150+62C>T NP_001182061.1:n.150+62C>T
NM_058195.4:c.194-3408C>T MANE Plus Clinical NP_478102.2:n.194-3408C>T
NM_058197.5:c.212C>T NP_478104.2:p.Ala71Val