Canonical Allele Identifier: CA5012355

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 245907
• ClinVar RCV Id: RCV000236694 ; RCV000410324 ; RCV001020466 ; RCV001454127 ; RCV001722275
• dbSNP Id: rs1800586
• ExAC: 9:21974860 C / G
• gnomAD v2: 9-21974860-C-G
• gnomAD v3: 9-21974861-C-G
• gnomAD v4: 9-21974861-C-G
• MyVariant Identifiers: chr9:g.21974860C>G (hg19) ; chr9:g.21974861C>G (hg38)
• PubMed: PMID:21801156 ; PMID:27978560

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974861C>G , CM000671.2:g.21974861C>G	GRCh38
NC_000009.11:g.21974860C>G , CM000671.1:g.21974860C>G	GRCh37
NC_000009.10:g.21964860C>G	NCBI36
NG_007485.1:g.24631G>C , LRG_11:g.24631G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000404796.3:c.348-54572C>G	ENSP00000385916.2:n.348-54572C>G
ENST00000579755.2:c.194-3653G>C MANE Plus Clinical	ENSP00000462950.1:n.194-3653G>C
ENST00000304494.9:c.-34G>C	ENSP00000307101.5:n.-34G>C
ENST00000361570.4:c.194-3653G>C	ENSP00000355153.4:n.194-3653G>C
ENST00000404796.2:c.348-54572C>G	ENSP00000385916.2:n.348-54572C>G
ENST00000494262.5:c.-3-3653G>C	ENSP00000464952.1:n.-3-3653G>C
ENST00000498124.1:c.-34G>C	ENSP00000418915.1:n.-34G>C
ENST00000498628.6:c.-3-3653G>C	ENSP00000467857.1:n.-3-3653G>C
ENST00000530628.2:c.194-3653G>C	ENSP00000432664.2:n.194-3653G>C
ENST00000579755.1:c.194-3653G>C	ENSP00000462950.1:n.194-3653G>C
NM_000077.4:c.-34G>C , LRG_11t1:c.-34G>C	NP_000068.1:n.-34G>C
NM_001195132.1:c.-34G>C	NP_001182061.1:n.-34G>C
NM_058195.3:c.194-3653G>C , LRG_11t2:c.194-3653G>C	NP_478102.2:n.194-3653G>C
XM_011517675.1:c.-34G>C	XP_011515977.1:n.-34G>C
XM_011517676.1:c.-34G>C	XP_011515978.1:n.-34G>C
XM_011517679.1:c.-3-3653G>C	XP_011515981.1:n.-3-3653G>C
XR_929159.1:n.368G>C
XR_929161.1:n.341-3653G>C
XR_929162.1:n.341-3653G>C
XR_929163.1:n.290-3653G>C
NM_001363763.1:c.-3-3653G>C	NP_001350692.1:n.-3-3653G>C
XM_011517675.2:c.-34G>C	XP_011515977.1:n.-34G>C
XM_011517676.2:c.-34G>C	XP_011515978.1:n.-34G>C
XR_929159.2:n.297G>C
NM_001363763.2:c.-3-3653G>C	NP_001350692.1:n.-3-3653G>C
NM_058195.4:c.194-3653G>C MANE Plus Clinical	NP_478102.2:n.194-3653G>C