Canonical Allele Identifier: CA373085036

Gene: CDKN2A

Linked Data

• dbSNP Id: rs2131079331
• MyVariant Identifiers: chr9:g.21968221G>C (hg19) ; chr9:g.21968222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968222G>C , CM000671.2:g.21968222G>C	GRCh38
NC_000009.11:g.21968221G>C , CM000671.1:g.21968221G>C	GRCh37
NC_000009.10:g.21958221G>C	NCBI36
NG_007485.1:g.31270C>G , LRG_11:g.31270C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*7C>G MANE Select	ENSP00000307101.5:n.*7C>G
ENST00000404796.3:c.348-61211G>C	ENSP00000385916.2:n.348-61211G>C
ENST00000579755.2:c.*122C>G MANE Plus Clinical	ENSP00000462950.1:n.*122C>G
ENST00000304494.9:c.*7C>G	ENSP00000307101.5:n.*7C>G
ENST00000361570.4:c.*7C>G	ENSP00000355153.4:n.*7C>G
ENST00000380151.3:c.752C>G	ENSP00000369496.3:n.752C>G
ENST00000404796.2:c.348-61211G>C	ENSP00000385916.2:n.348-61211G>C
ENST00000494262.5:c.*7C>G	ENSP00000464952.1:n.*7C>G
ENST00000498124.1:c.*171C>G	ENSP00000418915.1:n.*171C>G
ENST00000498628.6:c.*7C>G	ENSP00000467857.1:n.*7C>G
ENST00000530628.2:c.*48C>G	ENSP00000432664.2:n.*48C>G
ENST00000578845.2:c.*7C>G	ENSP00000467390.1:n.*7C>G
ENST00000579122.1:c.404C>G	ENSP00000464202.1:p.Pro135Arg
ENST00000579755.1:c.*122C>G	ENSP00000462950.1:n.*122C>G
NM_000077.4:c.*7C>G , LRG_11t1:c.*7C>G	NP_000068.1:n.*7C>G
NM_001195132.1:c.*171C>G	NP_001182061.1:n.*171C>G
NM_058195.3:c.*122C>G , LRG_11t2:c.*122C>G	NP_478102.2:n.*122C>G
NM_058197.4:c.752C>G	NP_478104.2:n.752C>G
XM_005251343.1:c.*7C>G	XP_005251400.1:n.*7C>G
XM_011517679.1:c.*7C>G	XP_011515981.1:n.*7C>G
NM_001363763.1:c.*7C>G	NP_001350692.1:n.*7C>G
NM_001363763.2:c.*7C>G	NP_001350692.1:n.*7C>G
NM_000077.5:c.*7C>G MANE Select	NP_000068.1:n.*7C>G
NM_001195132.2:c.*171C>G	NP_001182061.1:n.*171C>G
NM_058195.4:c.*122C>G MANE Plus Clinical	NP_478102.2:n.*122C>G
NM_058197.5:c.*401C>G	NP_478104.2:n.*401C>G