Canonical Allele Identifier: CA373086102

Gene: CDKN2A

Linked Data

• dbSNP Id: rs35741010
• COSMIC: COSM33793
• MyVariant Identifiers: chr9:g.21971054C>G (hg19) ; chr9:g.21971055C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971055C>G , CM000671.2:g.21971055C>G	GRCh38
NC_000009.11:g.21971054C>G , CM000671.1:g.21971054C>G	GRCh37
NC_000009.10:g.21961054C>G	NCBI36
NG_007485.1:g.28437G>C , LRG_11:g.28437G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.304G>C MANE Select	ENSP00000307101.5:p.Ala102Pro
ENST00000404796.3:c.348-58378C>G	ENSP00000385916.2:n.348-58378C>G
ENST00000579755.2:c.347G>C MANE Plus Clinical	ENSP00000462950.1:p.Gly116Ala
ENST00000304494.9:c.304G>C	ENSP00000307101.5:p.Ala102Pro
ENST00000361570.4:c.346G>C	ENSP00000355153.4:p.Ala116Pro
ENST00000380150.2:n.278G>C
ENST00000380151.3:c.578G>C	ENSP00000369496.3:n.578G>C
ENST00000404796.2:c.348-58378C>G	ENSP00000385916.2:n.348-58378C>G
ENST00000479692.2:c.151G>C	ENSP00000466887.1:p.Ala51Pro
ENST00000494262.5:c.151G>C	ENSP00000464952.1:p.Ala51Pro
ENST00000497750.1:c.151G>C	ENSP00000468510.1:p.Ala51Pro
ENST00000498124.1:c.304G>C	ENSP00000418915.1:p.Ala102Pro
ENST00000498628.6:c.151G>C	ENSP00000467857.1:p.Ala51Pro
ENST00000530628.2:c.347G>C	ENSP00000432664.2:p.Gly116Ala
ENST00000578845.2:c.151G>C	ENSP00000467390.1:p.Ala51Pro
ENST00000579122.1:c.304G>C	ENSP00000464202.1:p.Ala102Pro
ENST00000579755.1:c.347G>C	ENSP00000462950.1:p.Gly116Ala
NM_000077.4:c.304G>C , LRG_11t1:c.304G>C	NP_000068.1:p.Ala102Pro
NM_001195132.1:c.304G>C	NP_001182061.1:p.Ala102Pro
NM_058195.3:c.347G>C , LRG_11t2:c.347G>C	NP_478102.2:p.Gly116Ala
NM_058197.4:c.578G>C	NP_478104.2:n.578G>C
XM_005251343.1:c.151G>C	XP_005251400.1:p.Ala51Pro
XM_011517675.1:c.304G>C	XP_011515977.1:p.Ala102Pro
XM_011517676.1:c.304G>C	XP_011515978.1:p.Ala102Pro
XM_011517679.1:c.151G>C	XP_011515981.1:p.Ala51Pro
XR_929159.1:n.705G>C
XR_929161.1:n.494G>C
XR_929162.1:n.494G>C
XR_929163.1:n.443G>C
XR_929164.1:n.226G>C
NM_001363763.1:c.151G>C	NP_001350692.1:p.Ala51Pro
XM_011517675.2:c.304G>C	XP_011515977.1:p.Ala102Pro
XM_011517676.2:c.304G>C	XP_011515978.1:p.Ala102Pro
XR_929159.2:n.634G>C
NM_001363763.2:c.151G>C	NP_001350692.1:p.Ala51Pro
NM_000077.5:c.304G>C MANE Select	NP_000068.1:p.Ala102Pro
NM_001195132.2:c.304G>C	NP_001182061.1:p.Ala102Pro
NM_058195.4:c.347G>C MANE Plus Clinical	NP_478102.2:p.Gly116Ala
NM_058197.5:c.*227G>C	NP_478104.2:n.*227G>C