Canonical Allele Identifier: CA190733455

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1035856991
• gnomAD v2: 9-21975173-C-G
• gnomAD v3: 9-21975174-C-G
• gnomAD v4: 9-21975174-C-G
• MyVariant Identifiers: chr9:g.21975173C>G (hg19) ; chr9:g.21975174C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21975174C>G , CM000671.2:g.21975174C>G	GRCh38
NC_000009.11:g.21975173C>G , CM000671.1:g.21975173C>G	GRCh37
NC_000009.10:g.21965173C>G	NCBI36
NG_007485.1:g.24318G>C , LRG_11:g.24318G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.348-54259C>G	ENSP00000385916.2:n.348-54259C>G
ENST00000579755.2:c.194-3966G>C MANE Plus Clinical	ENSP00000462950.1:n.194-3966G>C
ENST00000361570.4:c.194-3966G>C	ENSP00000355153.4:n.194-3966G>C
ENST00000404796.2:c.348-54259C>G	ENSP00000385916.2:n.348-54259C>G
ENST00000494262.5:c.-3-3966G>C	ENSP00000464952.1:n.-3-3966G>C
ENST00000498628.6:c.-3-3966G>C	ENSP00000467857.1:n.-3-3966G>C
ENST00000530628.2:c.194-3966G>C	ENSP00000432664.2:n.194-3966G>C
ENST00000579755.1:c.194-3966G>C	ENSP00000462950.1:n.194-3966G>C
NM_058195.3:c.194-3966G>C , LRG_11t2:c.194-3966G>C	NP_478102.2:n.194-3966G>C
XM_011517675.1:c.-347G>C	XP_011515977.1:n.-347G>C
XM_011517676.1:c.-347G>C	XP_011515978.1:n.-347G>C
XM_011517679.1:c.-3-3966G>C	XP_011515981.1:n.-3-3966G>C
XR_929159.1:n.55G>C
XR_929161.1:n.341-3966G>C
XR_929162.1:n.341-3966G>C
XR_929163.1:n.290-3966G>C
NM_001363763.1:c.-3-3966G>C	NP_001350692.1:n.-3-3966G>C
NM_001363763.2:c.-3-3966G>C	NP_001350692.1:n.-3-3966G>C
NM_058195.4:c.194-3966G>C MANE Plus Clinical	NP_478102.2:n.194-3966G>C