Canonical Allele Identifier: CA2783180295

Gene: CDKN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21989064T>A , CM000671.2:g.21989064T>A	GRCh38
NC_000009.11:g.21989063T>A , CM000671.1:g.21989063T>A	GRCh37
NC_000009.10:g.21979063T>A	NCBI36
NG_007485.1:g.10428A>T , LRG_11:g.10428A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-40369T>A	ENSP00000385916.2:n.348-40369T>A
ENST00000579755.2:c.193+5075A>T MANE Plus Clinical	ENSP00000462950.1:n.193+5075A>T
ENST00000361570.4:c.193+5075A>T	ENSP00000355153.4:n.193+5075A>T
ENST00000404796.2:c.348-40369T>A	ENSP00000385916.2:n.348-40369T>A
ENST00000494262.5:c.-4+4818A>T	ENSP00000464952.1:n.-4+4818A>T
ENST00000498628.6:c.-4+5757A>T	ENSP00000467857.1:n.-4+5757A>T
ENST00000530628.2:c.193+5075A>T	ENSP00000432664.2:n.193+5075A>T
ENST00000579755.1:c.193+5075A>T	ENSP00000462950.1:n.193+5075A>T
NM_058195.3:c.193+5075A>T , LRG_11t2:c.193+5075A>T	NP_478102.2:n.193+5075A>T
XM_011517678.1:c.*866A>T	XP_011515980.1:n.*866A>T
XM_011517679.1:c.-4+5757A>T	XP_011515981.1:n.-4+5757A>T
XR_929161.1:n.340+5075A>T
XR_929162.1:n.340+5075A>T
XR_929163.1:n.289+5075A>T
NM_001363763.1:c.-4+5757A>T	NP_001350692.1:n.-4+5757A>T
NM_001363763.2:c.-4+5757A>T	NP_001350692.1:n.-4+5757A>T
NM_058195.4:c.193+5075A>T MANE Plus Clinical	NP_478102.2:n.193+5075A>T