Canonical Allele Identifier: CA2593383224

Gene: CDKN2A

Linked Data

• dbSNP Id: rs2131107640
• gnomAD v3: 9-21974148-C-T
• gnomAD v4: 9-21974148-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974148C>T , CM000671.2:g.21974148C>T	GRCh38
NC_000009.11:g.21974147C>T , CM000671.1:g.21974147C>T	GRCh37
NC_000009.10:g.21964147C>T	NCBI36
NG_007485.1:g.25344G>A , LRG_11:g.25344G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.150+530G>A MANE Select	ENSP00000307101.5:n.150+530G>A
ENST00000404796.3:c.348-55285C>T	ENSP00000385916.2:n.348-55285C>T
ENST00000579755.2:c.194-2940G>A MANE Plus Clinical	ENSP00000462950.1:n.194-2940G>A
ENST00000304494.9:c.150+530G>A	ENSP00000307101.5:n.150+530G>A
ENST00000361570.4:c.194-2940G>A	ENSP00000355153.4:n.194-2940G>A
ENST00000380151.3:c.424+256G>A	ENSP00000369496.3:n.424+256G>A
ENST00000404796.2:c.348-55285C>T	ENSP00000385916.2:n.348-55285C>T
ENST00000494262.5:c.-3-2940G>A	ENSP00000464952.1:n.-3-2940G>A
ENST00000498124.1:c.150+530G>A	ENSP00000418915.1:n.150+530G>A
ENST00000498628.6:c.-3-2940G>A	ENSP00000467857.1:n.-3-2940G>A
ENST00000530628.2:c.194-2940G>A	ENSP00000432664.2:n.194-2940G>A
ENST00000579122.1:c.150+530G>A	ENSP00000464202.1:n.150+530G>A
ENST00000579755.1:c.194-2940G>A	ENSP00000462950.1:n.194-2940G>A
NM_000077.4:c.150+530G>A , LRG_11t1:c.150+530G>A	NP_000068.1:n.150+530G>A
NM_001195132.1:c.150+530G>A	NP_001182061.1:n.150+530G>A
NM_058195.3:c.194-2940G>A , LRG_11t2:c.194-2940G>A	NP_478102.2:n.194-2940G>A
NM_058197.4:c.424+256G>A	NP_478104.2:n.424+256G>A
XM_011517675.1:c.150+530G>A	XP_011515977.1:n.150+530G>A
XM_011517676.1:c.150+530G>A	XP_011515978.1:n.150+530G>A
XM_011517679.1:c.-3-2940G>A	XP_011515981.1:n.-3-2940G>A
XR_929159.1:n.551+530G>A
XR_929161.1:n.341-2940G>A
XR_929162.1:n.341-2940G>A
XR_929163.1:n.290-2940G>A
NM_001363763.1:c.-3-2940G>A	NP_001350692.1:n.-3-2940G>A
XM_011517675.2:c.150+530G>A	XP_011515977.1:n.150+530G>A
XM_011517676.2:c.150+530G>A	XP_011515978.1:n.150+530G>A
XR_929159.2:n.480+530G>A
NM_001363763.2:c.-3-2940G>A	NP_001350692.1:n.-3-2940G>A
NM_000077.5:c.150+530G>A MANE Select	NP_000068.1:n.150+530G>A
NM_001195132.2:c.150+530G>A	NP_001182061.1:n.150+530G>A
NM_058195.4:c.194-2940G>A MANE Plus Clinical	NP_478102.2:n.194-2940G>A
NM_058197.5:c.*73+256G>A	NP_478104.2:n.*73+256G>A