Canonical Allele Identifier: CA2689596902

Gene: CDKN2A

Linked Data

• gnomAD v4: 9-21968082-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968082A>G , CM000671.2:g.21968082A>G	GRCh38
NC_000009.11:g.21968081A>G , CM000671.1:g.21968081A>G	GRCh37
NC_000009.10:g.21958081A>G	NCBI36
NG_007485.1:g.31410T>C , LRG_11:g.31410T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.*147T>C MANE Select	ENSP00000307101.5:n.*147T>C
ENST00000404796.3:c.348-61351A>G	ENSP00000385916.2:n.348-61351A>G
ENST00000579755.2:c.*262T>C MANE Plus Clinical	ENSP00000462950.1:n.*262T>C
ENST00000304494.9:c.*147T>C	ENSP00000307101.5:n.*147T>C
ENST00000361570.4:c.*147T>C	ENSP00000355153.4:n.*147T>C
ENST00000404796.2:c.348-61351A>G	ENSP00000385916.2:n.348-61351A>G
ENST00000498124.1:c.*311T>C	ENSP00000418915.1:n.*311T>C
ENST00000530628.2:c.*188T>C	ENSP00000432664.2:n.*188T>C
ENST00000578845.2:c.*147T>C	ENSP00000467390.1:n.*147T>C
ENST00000579122.1:c.*127T>C	ENSP00000464202.1:n.*127T>C
ENST00000579755.1:c.*262T>C	ENSP00000462950.1:n.*262T>C
NM_000077.4:c.*147T>C , LRG_11t1:c.*147T>C	NP_000068.1:n.*147T>C
NM_001195132.1:c.*311T>C	NP_001182061.1:n.*311T>C
NM_058195.3:c.*262T>C , LRG_11t2:c.*262T>C	NP_478102.2:n.*262T>C
NM_058197.4:c.892T>C	NP_478104.2:n.892T>C
XM_005251343.1:c.*147T>C	XP_005251400.1:n.*147T>C
XM_011517679.1:c.*147T>C	XP_011515981.1:n.*147T>C
NM_001363763.1:c.*147T>C	NP_001350692.1:n.*147T>C
NM_001363763.2:c.*147T>C	NP_001350692.1:n.*147T>C
NM_000077.5:c.*147T>C MANE Select	NP_000068.1:n.*147T>C
NM_001195132.2:c.*311T>C	NP_001182061.1:n.*311T>C
NM_058195.4:c.*262T>C MANE Plus Clinical	NP_478102.2:n.*262T>C
NM_058197.5:c.*541T>C	NP_478104.2:n.*541T>C