Canonical Allele Identifier: CA2837800875

Gene: CDKN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968157T>G , CM000671.2:g.21968157T>G	GRCh38
NC_000009.11:g.21968156T>G , CM000671.1:g.21968156T>G	GRCh37
NC_000009.10:g.21958156T>G	NCBI36
NG_007485.1:g.31335A>C , LRG_11:g.31335A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*72A>C MANE Select	ENSP00000307101.5:n.*72A>C
ENST00000404796.3:c.348-61276T>G	ENSP00000385916.2:n.348-61276T>G
ENST00000579755.2:c.*187A>C MANE Plus Clinical	ENSP00000462950.1:n.*187A>C
ENST00000304494.9:c.*72A>C	ENSP00000307101.5:n.*72A>C
ENST00000361570.4:c.*72A>C	ENSP00000355153.4:n.*72A>C
ENST00000404796.2:c.348-61276T>G	ENSP00000385916.2:n.348-61276T>G
ENST00000498124.1:c.*236A>C	ENSP00000418915.1:n.*236A>C
ENST00000498628.6:c.*72A>C	ENSP00000467857.1:n.*72A>C
ENST00000530628.2:c.*113A>C	ENSP00000432664.2:n.*113A>C
ENST00000578845.2:c.*72A>C	ENSP00000467390.1:n.*72A>C
ENST00000579122.1:c.*52A>C	ENSP00000464202.1:n.*52A>C
ENST00000579755.1:c.*187A>C	ENSP00000462950.1:n.*187A>C
NM_000077.4:c.*72A>C , LRG_11t1:c.*72A>C	NP_000068.1:n.*72A>C
NM_001195132.1:c.*236A>C	NP_001182061.1:n.*236A>C
NM_058195.3:c.*187A>C , LRG_11t2:c.*187A>C	NP_478102.2:n.*187A>C
NM_058197.4:c.817A>C	NP_478104.2:n.817A>C
XM_005251343.1:c.*72A>C	XP_005251400.1:n.*72A>C
XM_011517679.1:c.*72A>C	XP_011515981.1:n.*72A>C
NM_001363763.1:c.*72A>C	NP_001350692.1:n.*72A>C
NM_001363763.2:c.*72A>C	NP_001350692.1:n.*72A>C
NM_000077.5:c.*72A>C MANE Select	NP_000068.1:n.*72A>C
NM_001195132.2:c.*236A>C	NP_001182061.1:n.*236A>C
NM_058195.4:c.*187A>C MANE Plus Clinical	NP_478102.2:n.*187A>C
NM_058197.5:c.*466A>C	NP_478104.2:n.*466A>C