Canonical Allele Identifier: CA5012339

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 229890
• ClinVar RCV Id: RCV000223420 ; RCV000553430
• dbSNP Id: rs768278082
• ExAC: 9:21974812 C / A
• gnomAD v2: 9-21974812-C-A
• gnomAD v4: 9-21974813-C-A
• MyVariant Identifiers: chr9:g.21974812C>A (hg19) ; chr9:g.21974813C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974813C>A , CM000671.2:g.21974813C>A	GRCh38
NC_000009.11:g.21974812C>A , CM000671.1:g.21974812C>A	GRCh37
NC_000009.10:g.21964812C>A	NCBI36
NG_007485.1:g.24679G>T , LRG_11:g.24679G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.15G>T MANE Select	ENSP00000307101.5:p.Ala5=
ENST00000404796.3:c.348-54620C>A	ENSP00000385916.2:n.348-54620C>A
ENST00000579755.2:c.194-3605G>T MANE Plus Clinical	ENSP00000462950.1:n.194-3605G>T
ENST00000304494.9:c.15G>T	ENSP00000307101.5:p.Ala5=
ENST00000361570.4:c.194-3605G>T	ENSP00000355153.4:n.194-3605G>T
ENST00000380151.3:c.15G>T	ENSP00000369496.3:p.Ala5=
ENST00000404796.2:c.348-54620C>A	ENSP00000385916.2:n.348-54620C>A
ENST00000494262.5:c.-3-3605G>T	ENSP00000464952.1:n.-3-3605G>T
ENST00000498124.1:c.15G>T	ENSP00000418915.1:p.Ala5=
ENST00000498628.6:c.-3-3605G>T	ENSP00000467857.1:n.-3-3605G>T
ENST00000530628.2:c.194-3605G>T	ENSP00000432664.2:n.194-3605G>T
ENST00000579122.1:c.15G>T	ENSP00000464202.1:p.Ala5=
ENST00000579755.1:c.194-3605G>T	ENSP00000462950.1:n.194-3605G>T
NM_000077.4:c.15G>T , LRG_11t1:c.15G>T	NP_000068.1:p.Ala5=
NM_001195132.1:c.15G>T	NP_001182061.1:p.Ala5=
NM_058195.3:c.194-3605G>T , LRG_11t2:c.194-3605G>T	NP_478102.2:n.194-3605G>T
NM_058197.4:c.15G>T	NP_478104.2:p.Ala5=
XM_011517675.1:c.15G>T	XP_011515977.1:p.Ala5=
XM_011517676.1:c.15G>T	XP_011515978.1:p.Ala5=
XM_011517679.1:c.-3-3605G>T	XP_011515981.1:n.-3-3605G>T
XR_929159.1:n.416G>T
XR_929161.1:n.341-3605G>T
XR_929162.1:n.341-3605G>T
XR_929163.1:n.290-3605G>T
NM_001363763.1:c.-3-3605G>T	NP_001350692.1:n.-3-3605G>T
XM_011517675.2:c.15G>T	XP_011515977.1:p.Ala5=
XM_011517676.2:c.15G>T	XP_011515978.1:p.Ala5=
XR_929159.2:n.345G>T
NM_001363763.2:c.-3-3605G>T	NP_001350692.1:n.-3-3605G>T
NM_000077.5:c.15G>T MANE Select	NP_000068.1:p.Ala5=
NM_001195132.2:c.15G>T	NP_001182061.1:p.Ala5=
NM_058195.4:c.194-3605G>T MANE Plus Clinical	NP_478102.2:n.194-3605G>T
NM_058197.5:c.15G>T	NP_478104.2:p.Ala5=