Canonical Allele Identifier: CA1122183929

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1819497202
• gnomAD v3: 9-21968118-G-A
• gnomAD v4: 9-21968118-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968118G>A , CM000671.2:g.21968118G>A	GRCh38
NC_000009.11:g.21968117G>A , CM000671.1:g.21968117G>A	GRCh37
NC_000009.10:g.21958117G>A	NCBI36
NG_007485.1:g.31374C>T , LRG_11:g.31374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*111C>T MANE Select	ENSP00000307101.5:n.*111C>T
ENST00000404796.3:c.348-61315G>A	ENSP00000385916.2:n.348-61315G>A
ENST00000579755.2:c.*226C>T MANE Plus Clinical	ENSP00000462950.1:n.*226C>T
ENST00000304494.9:c.*111C>T	ENSP00000307101.5:n.*111C>T
ENST00000361570.4:c.*111C>T	ENSP00000355153.4:n.*111C>T
ENST00000404796.2:c.348-61315G>A	ENSP00000385916.2:n.348-61315G>A
ENST00000498124.1:c.*275C>T	ENSP00000418915.1:n.*275C>T
ENST00000498628.6:c.*111C>T	ENSP00000467857.1:n.*111C>T
ENST00000530628.2:c.*152C>T	ENSP00000432664.2:n.*152C>T
ENST00000578845.2:c.*111C>T	ENSP00000467390.1:n.*111C>T
ENST00000579122.1:c.*91C>T	ENSP00000464202.1:n.*91C>T
ENST00000579755.1:c.*226C>T	ENSP00000462950.1:n.*226C>T
NM_000077.4:c.*111C>T , LRG_11t1:c.*111C>T	NP_000068.1:n.*111C>T
NM_001195132.1:c.*275C>T	NP_001182061.1:n.*275C>T
NM_058195.3:c.*226C>T , LRG_11t2:c.*226C>T	NP_478102.2:n.*226C>T
NM_058197.4:c.856C>T	NP_478104.2:n.856C>T
XM_005251343.1:c.*111C>T	XP_005251400.1:n.*111C>T
XM_011517679.1:c.*111C>T	XP_011515981.1:n.*111C>T
NM_001363763.1:c.*111C>T	NP_001350692.1:n.*111C>T
NM_001363763.2:c.*111C>T	NP_001350692.1:n.*111C>T
NM_000077.5:c.*111C>T MANE Select	NP_000068.1:n.*111C>T
NM_001195132.2:c.*275C>T	NP_001182061.1:n.*275C>T
NM_058195.4:c.*226C>T MANE Plus Clinical	NP_478102.2:n.*226C>T
NM_058197.5:c.*505C>T	NP_478104.2:n.*505C>T