Canonical Allele Identifier: CA2783180033

Gene: CDKN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968199C>G , CM000671.2:g.21968199C>G	GRCh38
NC_000009.11:g.21968198C>G , CM000671.1:g.21968198C>G	GRCh37
NC_000009.10:g.21958198C>G	NCBI36
NG_007485.1:g.31293G>C , LRG_11:g.31293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*30G>C MANE Select	ENSP00000307101.5:n.*30G>C
ENST00000404796.3:c.348-61234C>G	ENSP00000385916.2:n.348-61234C>G
ENST00000579755.2:c.*145G>C MANE Plus Clinical	ENSP00000462950.1:n.*145G>C
ENST00000304494.9:c.*30G>C	ENSP00000307101.5:n.*30G>C
ENST00000361570.4:c.*30G>C	ENSP00000355153.4:n.*30G>C
ENST00000380151.3:c.775G>C	ENSP00000369496.3:n.775G>C
ENST00000404796.2:c.348-61234C>G	ENSP00000385916.2:n.348-61234C>G
ENST00000494262.5:c.*30G>C	ENSP00000464952.1:n.*30G>C
ENST00000498124.1:c.*194G>C	ENSP00000418915.1:n.*194G>C
ENST00000498628.6:c.*30G>C	ENSP00000467857.1:n.*30G>C
ENST00000530628.2:c.*71G>C	ENSP00000432664.2:n.*71G>C
ENST00000578845.2:c.*30G>C	ENSP00000467390.1:n.*30G>C
ENST00000579122.1:c.*10G>C	ENSP00000464202.1:n.*10G>C
ENST00000579755.1:c.*145G>C	ENSP00000462950.1:n.*145G>C
NM_000077.4:c.*30G>C , LRG_11t1:c.*30G>C	NP_000068.1:n.*30G>C
NM_001195132.1:c.*194G>C	NP_001182061.1:n.*194G>C
NM_058195.3:c.*145G>C , LRG_11t2:c.*145G>C	NP_478102.2:n.*145G>C
NM_058197.4:c.775G>C	NP_478104.2:n.775G>C
XM_005251343.1:c.*30G>C	XP_005251400.1:n.*30G>C
XM_011517679.1:c.*30G>C	XP_011515981.1:n.*30G>C
NM_001363763.1:c.*30G>C	NP_001350692.1:n.*30G>C
NM_001363763.2:c.*30G>C	NP_001350692.1:n.*30G>C
NM_000077.5:c.*30G>C MANE Select	NP_000068.1:n.*30G>C
NM_001195132.2:c.*194G>C	NP_001182061.1:n.*194G>C
NM_058195.4:c.*145G>C MANE Plus Clinical	NP_478102.2:n.*145G>C
NM_058197.5:c.*424G>C	NP_478104.2:n.*424G>C