Canonical Allele Identifier: CA190743940

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1002155941
• gnomAD v3: 9-21988938-T-G
• gnomAD v4: 9-21988938-T-G
• MyVariant Identifiers: chr9:g.21988937T>G (hg19) ; chr9:g.21988938T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21988938T>G , CM000671.2:g.21988938T>G	GRCh38
NC_000009.11:g.21988937T>G , CM000671.1:g.21988937T>G	GRCh37
NC_000009.10:g.21978937T>G	NCBI36
NG_007485.1:g.10554A>C , LRG_11:g.10554A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-40495T>G	ENSP00000385916.2:n.348-40495T>G
ENST00000579755.2:c.193+5201A>C MANE Plus Clinical	ENSP00000462950.1:n.193+5201A>C
ENST00000361570.4:c.193+5201A>C	ENSP00000355153.4:n.193+5201A>C
ENST00000404796.2:c.348-40495T>G	ENSP00000385916.2:n.348-40495T>G
ENST00000494262.5:c.-4+4944A>C	ENSP00000464952.1:n.-4+4944A>C
ENST00000498628.6:c.-4+5883A>C	ENSP00000467857.1:n.-4+5883A>C
ENST00000530628.2:c.193+5201A>C	ENSP00000432664.2:n.193+5201A>C
ENST00000579755.1:c.193+5201A>C	ENSP00000462950.1:n.193+5201A>C
NM_058195.3:c.193+5201A>C , LRG_11t2:c.193+5201A>C	NP_478102.2:n.193+5201A>C
XM_011517678.1:c.*992A>C	XP_011515980.1:n.*992A>C
XM_011517679.1:c.-4+5883A>C	XP_011515981.1:n.-4+5883A>C
XR_929161.1:n.340+5201A>C
XR_929162.1:n.340+5201A>C
XR_929163.1:n.289+5201A>C
NM_001363763.1:c.-4+5883A>C	NP_001350692.1:n.-4+5883A>C
NM_001363763.2:c.-4+5883A>C	NP_001350692.1:n.-4+5883A>C
NM_058195.4:c.193+5201A>C MANE Plus Clinical	NP_478102.2:n.193+5201A>C