Canonical Allele Identifier: CA373086421
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs104894109
MyVariant Identifiers: chr9:g.21971191C>G (hg19) chr9:g.21971192C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971192C>G , CM000671.2:g.21971192C>G GRCh38
NC_000009.11:g.21971191C>G , CM000671.1:g.21971191C>G GRCh37
NC_000009.10:g.21961191C>G NCBI36
NG_007485.1:g.28300G>C , LRG_11:g.28300G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.167G>C MANE Select ENSP00000307101.5:p.Ser56Thr
ENST00000404796.3:c.348-58241C>G ENSP00000385916.2:n.348-58241C>G
ENST00000579755.2:c.210G>C MANE Plus Clinical ENSP00000462950.1:p.Gln70His
ENST00000304494.9:c.167G>C ENSP00000307101.5:p.Ser56Thr
ENST00000361570.4:c.210G>C ENSP00000355153.4:p.Gln70His
ENST00000380150.2:n.141G>C
ENST00000380151.3:c.441G>C ENSP00000369496.3:n.441G>C
ENST00000404796.2:c.348-58241C>G ENSP00000385916.2:n.348-58241C>G
ENST00000479692.2:c.14G>C ENSP00000466887.1:p.Ser5Thr
ENST00000494262.5:c.14G>C ENSP00000464952.1:p.Ser5Thr
ENST00000497750.1:c.14G>C ENSP00000468510.1:p.Ser5Thr
ENST00000498124.1:c.167G>C ENSP00000418915.1:p.Ser56Thr
ENST00000498628.6:c.14G>C ENSP00000467857.1:p.Ser5Thr
ENST00000530628.2:c.210G>C ENSP00000432664.2:p.Gln70His
ENST00000578845.2:c.14G>C ENSP00000467390.1:p.Ser5Thr
ENST00000579122.1:c.167G>C ENSP00000464202.1:p.Ser56Thr
ENST00000579755.1:c.210G>C ENSP00000462950.1:p.Gln70His
NM_000077.4:c.167G>C , LRG_11t1:c.167G>C NP_000068.1:p.Ser56Thr
NM_001195132.1:c.167G>C NP_001182061.1:p.Ser56Thr
NM_058195.3:c.210G>C , LRG_11t2:c.210G>C NP_478102.2:p.Gln70His
NM_058197.4:c.441G>C NP_478104.2:n.441G>C
XM_005251343.1:c.14G>C XP_005251400.1:p.Ser5Thr
XM_011517675.1:c.167G>C XP_011515977.1:p.Ser56Thr
XM_011517676.1:c.167G>C XP_011515978.1:p.Ser56Thr
XM_011517679.1:c.14G>C XP_011515981.1:p.Ser5Thr
XR_929159.1:n.568G>C
XR_929161.1:n.357G>C
XR_929162.1:n.357G>C
XR_929163.1:n.306G>C
XR_929164.1:n.89G>C
NM_001363763.1:c.14G>C NP_001350692.1:p.Ser5Thr
XM_011517675.2:c.167G>C XP_011515977.1:p.Ser56Thr
XM_011517676.2:c.167G>C XP_011515978.1:p.Ser56Thr
XR_929159.2:n.497G>C
NM_001363763.2:c.14G>C NP_001350692.1:p.Ser5Thr
NM_000077.5:c.167G>C MANE Select NP_000068.1:p.Ser56Thr
NM_001195132.2:c.167G>C NP_001182061.1:p.Ser56Thr
NM_058195.4:c.210G>C MANE Plus Clinical NP_478102.2:p.Gln70His
NM_058197.5:c.*90G>C NP_478104.2:n.*90G>C
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