Canonical Allele Identifier: CA373086179

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1563889362
• gnomAD v4: 9-21971087-A-G
• MyVariant Identifiers: chr9:g.21971086A>G (hg19) ; chr9:g.21971087A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971087A>G , CM000671.2:g.21971087A>G	GRCh38
NC_000009.11:g.21971086A>G , CM000671.1:g.21971086A>G	GRCh37
NC_000009.10:g.21961086A>G	NCBI36
NG_007485.1:g.28405T>C , LRG_11:g.28405T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.272T>C MANE Select	ENSP00000307101.5:p.Leu91Pro
ENST00000404796.3:c.348-58346A>G	ENSP00000385916.2:n.348-58346A>G
ENST00000579755.2:c.315T>C MANE Plus Clinical	ENSP00000462950.1:p.Pro105=
ENST00000304494.9:c.272T>C	ENSP00000307101.5:p.Leu91Pro
ENST00000361570.4:c.314T>C	ENSP00000355153.4:p.Leu105Pro
ENST00000380150.2:n.246T>C
ENST00000380151.3:c.546T>C	ENSP00000369496.3:n.546T>C
ENST00000404796.2:c.348-58346A>G	ENSP00000385916.2:n.348-58346A>G
ENST00000479692.2:c.119T>C	ENSP00000466887.1:p.Leu40Pro
ENST00000494262.5:c.119T>C	ENSP00000464952.1:p.Leu40Pro
ENST00000497750.1:c.119T>C	ENSP00000468510.1:p.Leu40Pro
ENST00000498124.1:c.272T>C	ENSP00000418915.1:p.Leu91Pro
ENST00000498628.6:c.119T>C	ENSP00000467857.1:p.Leu40Pro
ENST00000530628.2:c.315T>C	ENSP00000432664.2:p.Pro105=
ENST00000578845.2:c.119T>C	ENSP00000467390.1:p.Leu40Pro
ENST00000579122.1:c.272T>C	ENSP00000464202.1:p.Leu91Pro
ENST00000579755.1:c.315T>C	ENSP00000462950.1:p.Pro105=
NM_000077.4:c.272T>C , LRG_11t1:c.272T>C	NP_000068.1:p.Leu91Pro
NM_001195132.1:c.272T>C	NP_001182061.1:p.Leu91Pro
NM_058195.3:c.315T>C , LRG_11t2:c.315T>C	NP_478102.2:p.Pro105=
NM_058197.4:c.546T>C	NP_478104.2:n.546T>C
XM_005251343.1:c.119T>C	XP_005251400.1:p.Leu40Pro
XM_011517675.1:c.272T>C	XP_011515977.1:p.Leu91Pro
XM_011517676.1:c.272T>C	XP_011515978.1:p.Leu91Pro
XM_011517679.1:c.119T>C	XP_011515981.1:p.Leu40Pro
XR_929159.1:n.673T>C
XR_929161.1:n.462T>C
XR_929162.1:n.462T>C
XR_929163.1:n.411T>C
XR_929164.1:n.194T>C
NM_001363763.1:c.119T>C	NP_001350692.1:p.Leu40Pro
XM_011517675.2:c.272T>C	XP_011515977.1:p.Leu91Pro
XM_011517676.2:c.272T>C	XP_011515978.1:p.Leu91Pro
XR_929159.2:n.602T>C
NM_001363763.2:c.119T>C	NP_001350692.1:p.Leu40Pro
NM_000077.5:c.272T>C MANE Select	NP_000068.1:p.Leu91Pro
NM_001195132.2:c.272T>C	NP_001182061.1:p.Leu91Pro
NM_058195.4:c.315T>C MANE Plus Clinical	NP_478102.2:p.Pro105=
NM_058197.5:c.*195T>C	NP_478104.2:n.*195T>C