Canonical Allele Identifier: CA5012130

Gene: CDKN2A

Linked Data

• dbSNP Id: rs772321849
• ExAC: 9:21968256 A / C
• gnomAD v2: 9-21968256-A-C
• gnomAD v4: 9-21968257-A-C
• MyVariant Identifiers: chr9:g.21968256A>C (hg19) ; chr9:g.21968257A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968257A>C , CM000671.2:g.21968257A>C	GRCh38
NC_000009.11:g.21968256A>C , CM000671.1:g.21968256A>C	GRCh37
NC_000009.10:g.21958256A>C	NCBI36
NG_007485.1:g.31235T>G , LRG_11:g.31235T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.458-15T>G MANE Select	ENSP00000307101.5:n.458-15T>G
ENST00000404796.3:c.348-61176A>C	ENSP00000385916.2:n.348-61176A>C
ENST00000579755.2:c.*102-15T>G MANE Plus Clinical	ENSP00000462950.1:n.*102-15T>G
ENST00000304494.9:c.458-15T>G	ENSP00000307101.5:n.458-15T>G
ENST00000361570.4:c.500-15T>G	ENSP00000355153.4:n.500-15T>G
ENST00000380151.3:c.732-15T>G	ENSP00000369496.3:n.732-15T>G
ENST00000404796.2:c.348-61176A>C	ENSP00000385916.2:n.348-61176A>C
ENST00000494262.5:c.305-15T>G	ENSP00000464952.1:n.305-15T>G
ENST00000498124.1:c.*151-15T>G	ENSP00000418915.1:n.*151-15T>G
ENST00000498628.6:c.305-15T>G	ENSP00000467857.1:n.305-15T>G
ENST00000530628.2:c.*28-15T>G	ENSP00000432664.2:n.*28-15T>G
ENST00000578845.2:c.305-15T>G	ENSP00000467390.1:n.305-15T>G
ENST00000579122.1:c.384-15T>G	ENSP00000464202.1:n.384-15T>G
ENST00000579755.1:c.*102-15T>G	ENSP00000462950.1:n.*102-15T>G
NM_000077.4:c.458-15T>G , LRG_11t1:c.458-15T>G	NP_000068.1:n.458-15T>G
NM_001195132.1:c.*151-15T>G	NP_001182061.1:n.*151-15T>G
NM_058195.3:c.*102-15T>G , LRG_11t2:c.*102-15T>G	NP_478102.2:n.*102-15T>G
NM_058197.4:c.732-15T>G	NP_478104.2:n.732-15T>G
XM_005251343.1:c.305-15T>G	XP_005251400.1:n.305-15T>G
XM_011517679.1:c.305-15T>G	XP_011515981.1:n.305-15T>G
NM_001363763.1:c.305-15T>G	NP_001350692.1:n.305-15T>G
XM_011517676.2:c.*1475T>G	XP_011515978.1:n.*1475T>G
XR_929159.2:n.2591T>G
NM_001363763.2:c.305-15T>G	NP_001350692.1:n.305-15T>G
NM_000077.5:c.458-15T>G MANE Select	NP_000068.1:n.458-15T>G
NM_001195132.2:c.*151-15T>G	NP_001182061.1:n.*151-15T>G
NM_058195.4:c.*102-15T>G MANE Plus Clinical	NP_478102.2:n.*102-15T>G
NM_058197.5:c.*381-15T>G	NP_478104.2:n.*381-15T>G