Canonical Allele Identifier: CA13008911
Gene: CDKN2A HGNC NCBI
COSMIC:
COSN14964972 (not active)
MyVariant.info:
GRCh38 chr9:g.21984662A>C
GRCh37 chr9:g.21984661A>C
gnomAD v2:
9:21984661 A / C
gnomAD v3:
9:21984662 A / C
gnomAD v4:
chr9-21984662-A-C
Joint Max Group AF 0.18476638 (EAS)
Genomes Max Group AF 0.18476638 (EAS)
ClinVar RCV:
RCV001522667
ClinVar Variation:
1170366
dbSNP:
3731217
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21984662A>C , CM000671.2:g.21984662A>C GRCh38
NC_000009.11:g.21984661A>C , CM000671.1:g.21984661A>C GRCh37
NC_000009.10:g.21974661A>C NCBI36
NG_007485.1:g.14830T>G , LRG_11:g.14830T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-44771A>C ENSP00000385916.2:n.348-44771A>C
ENST00000579755.2:c.193+9477T>G MANE Plus Clinical ENSP00000462950.1:n.193+9477T>G
ENST00000361570.4:c.193+9477T>G ENSP00000355153.4:n.193+9477T>G
ENST00000404796.2:c.348-44771A>C ENSP00000385916.2:n.348-44771A>C
ENST00000494262.5:c.-4+9220T>G ENSP00000464952.1:n.-4+9220T>G
ENST00000498628.6:c.-4+10159T>G ENSP00000467857.1:n.-4+10159T>G
ENST00000530628.2:c.193+9477T>G ENSP00000432664.2:n.193+9477T>G
ENST00000579755.1:c.193+9477T>G ENSP00000462950.1:n.193+9477T>G
NM_058195.3:c.193+9477T>G , LRG_11t2:c.193+9477T>G NP_478102.2:n.193+9477T>G
XM_011517679.1:c.-4+10159T>G XP_011515981.1:n.-4+10159T>G
XR_929161.1:n.340+9477T>G
XR_929162.1:n.340+9477T>G
XR_929163.1:n.289+9477T>G
NM_001363763.1:c.-4+10159T>G NP_001350692.1:n.-4+10159T>G
NM_001363763.2:c.-4+10159T>G NP_001350692.1:n.-4+10159T>G
NM_058195.4:c.193+9477T>G MANE Plus Clinical NP_478102.2:n.193+9477T>G
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