Canonical Allele Identifier: CA5012306

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1160771
• ClinVar RCV Id: RCV001505019
• dbSNP Id: rs773755761
• ExAC: 9:21974688 T / G
• gnomAD v2: 9-21974688-T-G
• gnomAD v4: 9-21974689-T-G
• MyVariant Identifiers: chr9:g.21974688T>G (hg19) ; chr9:g.21974689T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974689T>G , CM000671.2:g.21974689T>G	GRCh38
NC_000009.11:g.21974688T>G , CM000671.1:g.21974688T>G	GRCh37
NC_000009.10:g.21964688T>G	NCBI36
NG_007485.1:g.24803A>C , LRG_11:g.24803A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.139A>C MANE Select	ENSP00000307101.5:p.Arg47=
ENST00000404796.3:c.348-54744T>G	ENSP00000385916.2:n.348-54744T>G
ENST00000579755.2:c.194-3481A>C MANE Plus Clinical	ENSP00000462950.1:n.194-3481A>C
ENST00000304494.9:c.139A>C	ENSP00000307101.5:p.Arg47=
ENST00000361570.4:c.194-3481A>C	ENSP00000355153.4:n.194-3481A>C
ENST00000380151.3:c.139A>C	ENSP00000369496.3:p.Arg47=
ENST00000404796.2:c.348-54744T>G	ENSP00000385916.2:n.348-54744T>G
ENST00000494262.5:c.-3-3481A>C	ENSP00000464952.1:n.-3-3481A>C
ENST00000498124.1:c.139A>C	ENSP00000418915.1:p.Arg47=
ENST00000498628.6:c.-3-3481A>C	ENSP00000467857.1:n.-3-3481A>C
ENST00000530628.2:c.194-3481A>C	ENSP00000432664.2:n.194-3481A>C
ENST00000579122.1:c.139A>C	ENSP00000464202.1:p.Arg47=
ENST00000579755.1:c.194-3481A>C	ENSP00000462950.1:n.194-3481A>C
NM_000077.4:c.139A>C , LRG_11t1:c.139A>C	NP_000068.1:p.Arg47=
NM_001195132.1:c.139A>C	NP_001182061.1:p.Arg47=
NM_058195.3:c.194-3481A>C , LRG_11t2:c.194-3481A>C	NP_478102.2:n.194-3481A>C
NM_058197.4:c.139A>C	NP_478104.2:p.Arg47=
XM_011517675.1:c.139A>C	XP_011515977.1:p.Arg47=
XM_011517676.1:c.139A>C	XP_011515978.1:p.Arg47=
XM_011517679.1:c.-3-3481A>C	XP_011515981.1:n.-3-3481A>C
XR_929159.1:n.540A>C
XR_929161.1:n.341-3481A>C
XR_929162.1:n.341-3481A>C
XR_929163.1:n.290-3481A>C
NM_001363763.1:c.-3-3481A>C	NP_001350692.1:n.-3-3481A>C
XM_011517675.2:c.139A>C	XP_011515977.1:p.Arg47=
XM_011517676.2:c.139A>C	XP_011515978.1:p.Arg47=
XR_929159.2:n.469A>C
NM_001363763.2:c.-3-3481A>C	NP_001350692.1:n.-3-3481A>C
NM_000077.5:c.139A>C MANE Select	NP_000068.1:p.Arg47=
NM_001195132.2:c.139A>C	NP_001182061.1:p.Arg47=
NM_058195.4:c.194-3481A>C MANE Plus Clinical	NP_478102.2:n.194-3481A>C
NM_058197.5:c.139A>C	NP_478104.2:p.Arg47=