Canonical Allele Identifier: CA373086215

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1793349
• ClinVar RCV Id: RCV002426054
• dbSNP Id: rs2131094877
• MyVariant Identifiers: chr9:g.21971101G>C (hg19) ; chr9:g.21971102G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971102G>C , CM000671.2:g.21971102G>C	GRCh38
NC_000009.11:g.21971101G>C , CM000671.1:g.21971101G>C	GRCh37
NC_000009.10:g.21961101G>C	NCBI36
NG_007485.1:g.28390C>G , LRG_11:g.28390C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.257C>G MANE Select	ENSP00000307101.5:p.Ala86Gly
ENST00000404796.3:c.348-58331G>C	ENSP00000385916.2:n.348-58331G>C
ENST00000579755.2:c.300C>G MANE Plus Clinical	ENSP00000462950.1:p.Cys100Trp
ENST00000304494.9:c.257C>G	ENSP00000307101.5:p.Ala86Gly
ENST00000361570.4:c.299C>G	ENSP00000355153.4:p.Ala100Gly
ENST00000380150.2:n.231C>G
ENST00000380151.3:c.531C>G	ENSP00000369496.3:n.531C>G
ENST00000404796.2:c.348-58331G>C	ENSP00000385916.2:n.348-58331G>C
ENST00000479692.2:c.104C>G	ENSP00000466887.1:p.Ala35Gly
ENST00000494262.5:c.104C>G	ENSP00000464952.1:p.Ala35Gly
ENST00000497750.1:c.104C>G	ENSP00000468510.1:p.Ala35Gly
ENST00000498124.1:c.257C>G	ENSP00000418915.1:p.Ala86Gly
ENST00000498628.6:c.104C>G	ENSP00000467857.1:p.Ala35Gly
ENST00000530628.2:c.300C>G	ENSP00000432664.2:p.Cys100Trp
ENST00000578845.2:c.104C>G	ENSP00000467390.1:p.Ala35Gly
ENST00000579122.1:c.257C>G	ENSP00000464202.1:p.Ala86Gly
ENST00000579755.1:c.300C>G	ENSP00000462950.1:p.Cys100Trp
NM_000077.4:c.257C>G , LRG_11t1:c.257C>G	NP_000068.1:p.Ala86Gly
NM_001195132.1:c.257C>G	NP_001182061.1:p.Ala86Gly
NM_058195.3:c.300C>G , LRG_11t2:c.300C>G	NP_478102.2:p.Cys100Trp
NM_058197.4:c.531C>G	NP_478104.2:n.531C>G
XM_005251343.1:c.104C>G	XP_005251400.1:p.Ala35Gly
XM_011517675.1:c.257C>G	XP_011515977.1:p.Ala86Gly
XM_011517676.1:c.257C>G	XP_011515978.1:p.Ala86Gly
XM_011517679.1:c.104C>G	XP_011515981.1:p.Ala35Gly
XR_929159.1:n.658C>G
XR_929161.1:n.447C>G
XR_929162.1:n.447C>G
XR_929163.1:n.396C>G
XR_929164.1:n.179C>G
NM_001363763.1:c.104C>G	NP_001350692.1:p.Ala35Gly
XM_011517675.2:c.257C>G	XP_011515977.1:p.Ala86Gly
XM_011517676.2:c.257C>G	XP_011515978.1:p.Ala86Gly
XR_929159.2:n.587C>G
NM_001363763.2:c.104C>G	NP_001350692.1:p.Ala35Gly
NM_000077.5:c.257C>G MANE Select	NP_000068.1:p.Ala86Gly
NM_001195132.2:c.257C>G	NP_001182061.1:p.Ala86Gly
NM_058195.4:c.300C>G MANE Plus Clinical	NP_478102.2:p.Cys100Trp
NM_058197.5:c.*180C>G	NP_478104.2:n.*180C>G