Canonical Allele Identifier: CA373085071

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1528240
• ClinVar RCV Id: RCV002077451
• dbSNP Id: rs1554653281
• gnomAD v4: 9-21968238-G-A
• MyVariant Identifiers: chr9:g.21968237G>A (hg19) ; chr9:g.21968238G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968238G>A , CM000671.2:g.21968238G>A	GRCh38
NC_000009.11:g.21968237G>A , CM000671.1:g.21968237G>A	GRCh37
NC_000009.10:g.21958237G>A	NCBI36
NG_007485.1:g.31254C>T , LRG_11:g.31254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.462C>T MANE Select	ENSP00000307101.5:p.Ile154=
ENST00000404796.3:c.348-61195G>A	ENSP00000385916.2:n.348-61195G>A
ENST00000579755.2:c.*106C>T MANE Plus Clinical	ENSP00000462950.1:n.*106C>T
ENST00000304494.9:c.462C>T	ENSP00000307101.5:p.Ile154=
ENST00000361570.4:c.504C>T	ENSP00000355153.4:p.Ile168=
ENST00000380151.3:c.736C>T	ENSP00000369496.3:n.736C>T
ENST00000404796.2:c.348-61195G>A	ENSP00000385916.2:n.348-61195G>A
ENST00000494262.5:c.309C>T	ENSP00000464952.1:p.Ile103=
ENST00000498124.1:c.*155C>T	ENSP00000418915.1:n.*155C>T
ENST00000498628.6:c.309C>T	ENSP00000467857.1:p.Ile103=
ENST00000530628.2:c.*32C>T	ENSP00000432664.2:n.*32C>T
ENST00000578845.2:c.309C>T	ENSP00000467390.1:p.Ile103=
ENST00000579122.1:c.388C>T	ENSP00000464202.1:p.Pro130Ser
ENST00000579755.1:c.*106C>T	ENSP00000462950.1:n.*106C>T
NM_000077.4:c.462C>T , LRG_11t1:c.462C>T	NP_000068.1:p.Ile154=
NM_001195132.1:c.*155C>T	NP_001182061.1:n.*155C>T
NM_058195.3:c.*106C>T , LRG_11t2:c.*106C>T	NP_478102.2:n.*106C>T
NM_058197.4:c.736C>T	NP_478104.2:n.736C>T
XM_005251343.1:c.309C>T	XP_005251400.1:p.Ile103=
XM_011517679.1:c.309C>T	XP_011515981.1:p.Ile103=
NM_001363763.1:c.309C>T	NP_001350692.1:p.Ile103=
NM_001363763.2:c.309C>T	NP_001350692.1:p.Ile103=
NM_000077.5:c.462C>T MANE Select	NP_000068.1:p.Ile154=
NM_001195132.2:c.*155C>T	NP_001182061.1:n.*155C>T
NM_058195.4:c.*106C>T MANE Plus Clinical	NP_478102.2:n.*106C>T
NM_058197.5:c.*385C>T	NP_478104.2:n.*385C>T