Canonical Allele Identifier: CA373086397

Gene: CDKN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971180G>C , CM000671.2:g.21971180G>C	GRCh38
NC_000009.11:g.21971179G>C , CM000671.1:g.21971179G>C	GRCh37
NC_000009.10:g.21961179G>C	NCBI36
NG_007485.1:g.28312C>G , LRG_11:g.28312C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.179C>G MANE Select	ENSP00000307101.5:p.Ala60Gly
ENST00000404796.3:c.348-58253G>C	ENSP00000385916.2:n.348-58253G>C
ENST00000579755.2:c.222C>G MANE Plus Clinical	ENSP00000462950.1:p.Gly74=
ENST00000304494.9:c.179C>G	ENSP00000307101.5:p.Ala60Gly
ENST00000361570.4:c.222C>G	ENSP00000355153.4:p.Gly74=
ENST00000380150.2:n.153C>G
ENST00000380151.3:c.453C>G	ENSP00000369496.3:n.453C>G
ENST00000404796.2:c.348-58253G>C	ENSP00000385916.2:n.348-58253G>C
ENST00000479692.2:c.26C>G	ENSP00000466887.1:p.Ala9Gly
ENST00000494262.5:c.26C>G	ENSP00000464952.1:p.Ala9Gly
ENST00000497750.1:c.26C>G	ENSP00000468510.1:p.Ala9Gly
ENST00000498124.1:c.179C>G	ENSP00000418915.1:p.Ala60Gly
ENST00000498628.6:c.26C>G	ENSP00000467857.1:p.Ala9Gly
ENST00000530628.2:c.222C>G	ENSP00000432664.2:p.Gly74=
ENST00000578845.2:c.26C>G	ENSP00000467390.1:p.Ala9Gly
ENST00000579122.1:c.179C>G	ENSP00000464202.1:p.Ala60Gly
ENST00000579755.1:c.222C>G	ENSP00000462950.1:p.Gly74=
NM_000077.4:c.179C>G , LRG_11t1:c.179C>G	NP_000068.1:p.Ala60Gly
NM_001195132.1:c.179C>G	NP_001182061.1:p.Ala60Gly
NM_058195.3:c.222C>G , LRG_11t2:c.222C>G	NP_478102.2:p.Gly74=
NM_058197.4:c.453C>G	NP_478104.2:n.453C>G
XM_005251343.1:c.26C>G	XP_005251400.1:p.Ala9Gly
XM_011517675.1:c.179C>G	XP_011515977.1:p.Ala60Gly
XM_011517676.1:c.179C>G	XP_011515978.1:p.Ala60Gly
XM_011517679.1:c.26C>G	XP_011515981.1:p.Ala9Gly
XR_929159.1:n.580C>G
XR_929161.1:n.369C>G
XR_929162.1:n.369C>G
XR_929163.1:n.318C>G
XR_929164.1:n.101C>G
NM_001363763.1:c.26C>G	NP_001350692.1:p.Ala9Gly
XM_011517675.2:c.179C>G	XP_011515977.1:p.Ala60Gly
XM_011517676.2:c.179C>G	XP_011515978.1:p.Ala60Gly
XR_929159.2:n.509C>G
NM_001363763.2:c.26C>G	NP_001350692.1:p.Ala9Gly
NM_000077.5:c.179C>G MANE Select	NP_000068.1:p.Ala60Gly
NM_001195132.2:c.179C>G	NP_001182061.1:p.Ala60Gly
NM_058195.4:c.222C>G MANE Plus Clinical	NP_478102.2:p.Gly74=
NM_058197.5:c.*102C>G	NP_478104.2:n.*102C>G