Canonical Allele Identifier: CA190743759

Gene: CDKN2A

Linked Data

• dbSNP Id: rs80042433
• gnomAD v2: 9-21988547-C-G
• gnomAD v3: 9-21988548-C-G
• gnomAD v4: 9-21988548-C-G
• MyVariant Identifiers: chr9:g.21988547C>G (hg19) ; chr9:g.21988548C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21988548C>G , CM000671.2:g.21988548C>G	GRCh38
NC_000009.11:g.21988547C>G , CM000671.1:g.21988547C>G	GRCh37
NC_000009.10:g.21978547C>G	NCBI36
NG_007485.1:g.10944G>C , LRG_11:g.10944G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-40885C>G	ENSP00000385916.2:n.348-40885C>G
ENST00000579755.2:c.193+5591G>C MANE Plus Clinical	ENSP00000462950.1:n.193+5591G>C
ENST00000361570.4:c.193+5591G>C	ENSP00000355153.4:n.193+5591G>C
ENST00000404796.2:c.348-40885C>G	ENSP00000385916.2:n.348-40885C>G
ENST00000494262.5:c.-4+5334G>C	ENSP00000464952.1:n.-4+5334G>C
ENST00000498628.6:c.-4+6273G>C	ENSP00000467857.1:n.-4+6273G>C
ENST00000530628.2:c.193+5591G>C	ENSP00000432664.2:n.193+5591G>C
ENST00000579755.1:c.193+5591G>C	ENSP00000462950.1:n.193+5591G>C
NM_058195.3:c.193+5591G>C , LRG_11t2:c.193+5591G>C	NP_478102.2:n.193+5591G>C
XM_011517678.1:c.*1382G>C	XP_011515980.1:n.*1382G>C
XM_011517679.1:c.-4+6273G>C	XP_011515981.1:n.-4+6273G>C
XR_929161.1:n.340+5591G>C
XR_929162.1:n.340+5591G>C
XR_929163.1:n.289+5591G>C
NM_001363763.1:c.-4+6273G>C	NP_001350692.1:n.-4+6273G>C
NM_001363763.2:c.-4+6273G>C	NP_001350692.1:n.-4+6273G>C
NM_058195.4:c.193+5591G>C MANE Plus Clinical	NP_478102.2:n.193+5591G>C