Canonical Allele Identifier: CA373085053

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 2084175
• ClinVar RCV Id: RCV003009422
• dbSNP Id: rs1473161353
• gnomAD v2: 9-21968229-C-A
• gnomAD v4: 9-21968230-C-A
• MyVariant Identifiers: chr9:g.21968229C>A (hg19) ; chr9:g.21968230C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968230C>A , CM000671.2:g.21968230C>A	GRCh38
NC_000009.11:g.21968229C>A , CM000671.1:g.21968229C>A	GRCh37
NC_000009.10:g.21958229C>A	NCBI36
NG_007485.1:g.31262G>T , LRG_11:g.31262G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.470G>T MANE Select	ENSP00000307101.5:p.Ter157Leu
ENST00000404796.3:c.348-61203C>A	ENSP00000385916.2:n.348-61203C>A
ENST00000579755.2:c.*114G>T MANE Plus Clinical	ENSP00000462950.1:n.*114G>T
ENST00000304494.9:c.470G>T	ENSP00000307101.5:p.Ter157Leu
ENST00000361570.4:c.512G>T	ENSP00000355153.4:p.Ter171Leu
ENST00000380151.3:c.744G>T	ENSP00000369496.3:n.744G>T
ENST00000404796.2:c.348-61203C>A	ENSP00000385916.2:n.348-61203C>A
ENST00000494262.5:c.317G>T	ENSP00000464952.1:p.Ter106Leu
ENST00000498124.1:c.*163G>T	ENSP00000418915.1:n.*163G>T
ENST00000498628.6:c.317G>T	ENSP00000467857.1:p.Ter106Leu
ENST00000530628.2:c.*40G>T	ENSP00000432664.2:n.*40G>T
ENST00000578845.2:c.317G>T	ENSP00000467390.1:p.Ter106Leu
ENST00000579122.1:c.396G>T	ENSP00000464202.1:p.Leu132Phe
ENST00000579755.1:c.*114G>T	ENSP00000462950.1:n.*114G>T
NM_000077.4:c.470G>T , LRG_11t1:c.470G>T	NP_000068.1:p.Ter157Leu
NM_001195132.1:c.*163G>T	NP_001182061.1:n.*163G>T
NM_058195.3:c.*114G>T , LRG_11t2:c.*114G>T	NP_478102.2:n.*114G>T
NM_058197.4:c.744G>T	NP_478104.2:n.744G>T
XM_005251343.1:c.317G>T	XP_005251400.1:p.Ter106Leu
XM_011517679.1:c.317G>T	XP_011515981.1:p.Ter106Leu
NM_001363763.1:c.317G>T	NP_001350692.1:p.Ter106Leu
NM_001363763.2:c.317G>T	NP_001350692.1:p.Ter106Leu
NM_000077.5:c.470G>T MANE Select	NP_000068.1:p.Ter157Leu
NM_001195132.2:c.*163G>T	NP_001182061.1:n.*163G>T
NM_058195.4:c.*114G>T MANE Plus Clinical	NP_478102.2:n.*114G>T
NM_058197.5:c.*393G>T	NP_478104.2:n.*393G>T