Canonical Allele Identifier: CA5012165

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 495536
• ClinVar RCV Id: RCV001021651 ; RCV001046870
• dbSNP Id: rs372599739
• ExAC: 9:21970958 C / G
• gnomAD v2: 9-21970958-C-G
• gnomAD v3: 9-21970959-C-G
• gnomAD v4: 9-21970959-C-G
• MyVariant Identifiers: chr9:g.21970958C>G (hg19) ; chr9:g.21970959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970959C>G , CM000671.2:g.21970959C>G	GRCh38
NC_000009.11:g.21970958C>G , CM000671.1:g.21970958C>G	GRCh37
NC_000009.10:g.21960958C>G	NCBI36
NG_007485.1:g.28533G>C , LRG_11:g.28533G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.400G>C MANE Select	ENSP00000307101.5:p.Ala134Pro
ENST00000404796.3:c.348-58474C>G	ENSP00000385916.2:n.348-58474C>G
ENST00000579755.2:c.*44G>C MANE Plus Clinical	ENSP00000462950.1:n.*44G>C
ENST00000304494.9:c.400G>C	ENSP00000307101.5:p.Ala134Pro
ENST00000361570.4:c.442G>C	ENSP00000355153.4:p.Ala148Pro
ENST00000380150.2:n.374G>C
ENST00000380151.3:c.674G>C	ENSP00000369496.3:n.674G>C
ENST00000404796.2:c.348-58474C>G	ENSP00000385916.2:n.348-58474C>G
ENST00000479692.2:c.247G>C	ENSP00000466887.1:p.Ala83Pro
ENST00000494262.5:c.247G>C	ENSP00000464952.1:p.Ala83Pro
ENST00000497750.1:c.247G>C	ENSP00000468510.1:p.Ala83Pro
ENST00000498124.1:c.400G>C	ENSP00000418915.1:p.Ala134Pro
ENST00000498628.6:c.247G>C	ENSP00000467857.1:p.Ala83Pro
ENST00000530628.2:c.*27+17G>C	ENSP00000432664.2:n.*27+17G>C
ENST00000578845.2:c.247G>C	ENSP00000467390.1:p.Ala83Pro
ENST00000579122.1:c.383+17G>C	ENSP00000464202.1:n.383+17G>C
ENST00000579755.1:c.*44G>C	ENSP00000462950.1:n.*44G>C
NM_000077.4:c.400G>C , LRG_11t1:c.400G>C	NP_000068.1:p.Ala134Pro
NM_001195132.1:c.400G>C	NP_001182061.1:p.Ala134Pro
NM_058195.3:c.*44G>C , LRG_11t2:c.*44G>C	NP_478102.2:n.*44G>C
NM_058197.4:c.674G>C	NP_478104.2:n.674G>C
XM_005251343.1:c.247G>C	XP_005251400.1:p.Ala83Pro
XM_011517675.1:c.400G>C	XP_011515977.1:p.Ala134Pro
XM_011517676.1:c.400G>C	XP_011515978.1:p.Ala134Pro
XM_011517679.1:c.247G>C	XP_011515981.1:p.Ala83Pro
XR_929159.1:n.801G>C
XR_929161.1:n.590G>C
XR_929162.1:n.590G>C
XR_929163.1:n.539G>C
XR_929164.1:n.322G>C
NM_001363763.1:c.247G>C	NP_001350692.1:p.Ala83Pro
XM_011517675.2:c.400G>C	XP_011515977.1:p.Ala134Pro
XM_011517676.2:c.400G>C	XP_011515978.1:p.Ala134Pro
XR_929159.2:n.730G>C
NM_001363763.2:c.247G>C	NP_001350692.1:p.Ala83Pro
NM_000077.5:c.400G>C MANE Select	NP_000068.1:p.Ala134Pro
NM_001195132.2:c.400G>C	NP_001182061.1:p.Ala134Pro
NM_058195.4:c.*44G>C MANE Plus Clinical	NP_478102.2:n.*44G>C
NM_058197.5:c.*323G>C	NP_478104.2:n.*323G>C