Canonical Allele Identifier: CA190743945

Gene: CDKN2A

Linked Data

• dbSNP Id: rs533249757
• gnomAD v2: 9-21988943-C-T
• gnomAD v3: 9-21988944-C-T
• gnomAD v4: 9-21988944-C-T
• MyVariant Identifiers: chr9:g.21988943C>T (hg19) ; chr9:g.21988944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21988944C>T , CM000671.2:g.21988944C>T	GRCh38
NC_000009.11:g.21988943C>T , CM000671.1:g.21988943C>T	GRCh37
NC_000009.10:g.21978943C>T	NCBI36
NG_007485.1:g.10548G>A , LRG_11:g.10548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-40489C>T	ENSP00000385916.2:n.348-40489C>T
ENST00000579755.2:c.193+5195G>A MANE Plus Clinical	ENSP00000462950.1:n.193+5195G>A
ENST00000361570.4:c.193+5195G>A	ENSP00000355153.4:n.193+5195G>A
ENST00000404796.2:c.348-40489C>T	ENSP00000385916.2:n.348-40489C>T
ENST00000494262.5:c.-4+4938G>A	ENSP00000464952.1:n.-4+4938G>A
ENST00000498628.6:c.-4+5877G>A	ENSP00000467857.1:n.-4+5877G>A
ENST00000530628.2:c.193+5195G>A	ENSP00000432664.2:n.193+5195G>A
ENST00000579755.1:c.193+5195G>A	ENSP00000462950.1:n.193+5195G>A
NM_058195.3:c.193+5195G>A , LRG_11t2:c.193+5195G>A	NP_478102.2:n.193+5195G>A
XM_011517678.1:c.*986G>A	XP_011515980.1:n.*986G>A
XM_011517679.1:c.-4+5877G>A	XP_011515981.1:n.-4+5877G>A
XR_929161.1:n.340+5195G>A
XR_929162.1:n.340+5195G>A
XR_929163.1:n.289+5195G>A
NM_001363763.1:c.-4+5877G>A	NP_001350692.1:n.-4+5877G>A
NM_001363763.2:c.-4+5877G>A	NP_001350692.1:n.-4+5877G>A
NM_058195.4:c.193+5195G>A MANE Plus Clinical	NP_478102.2:n.193+5195G>A