Canonical Allele Identifier: CA464261848

Gene: CDKN2A

Linked Data

• MyVariant Identifiers: chr9:g.21970995C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970996C>G , CM000671.2:g.21970996C>G	GRCh38
NC_000009.11:g.21970995C>G , CM000671.1:g.21970995C>G	GRCh37
NC_000009.10:g.21960995C>G	NCBI36
NG_007485.1:g.28496G>C , LRG_11:g.28496G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.363G>C MANE Select	ENSP00000307101.5:p.Leu121=
ENST00000404796.3:c.348-58437C>G	ENSP00000385916.2:n.348-58437C>G
ENST00000579755.2:c.*7G>C MANE Plus Clinical	ENSP00000462950.1:n.*7G>C
ENST00000304494.9:c.363G>C	ENSP00000307101.5:p.Leu121=
ENST00000361570.4:c.405G>C	ENSP00000355153.4:p.Leu135=
ENST00000380150.2:n.337G>C
ENST00000380151.3:c.637G>C	ENSP00000369496.3:n.637G>C
ENST00000404796.2:c.348-58437C>G	ENSP00000385916.2:n.348-58437C>G
ENST00000479692.2:c.210G>C	ENSP00000466887.1:p.Leu70=
ENST00000494262.5:c.210G>C	ENSP00000464952.1:p.Leu70=
ENST00000497750.1:c.210G>C	ENSP00000468510.1:p.Leu70=
ENST00000498124.1:c.363G>C	ENSP00000418915.1:p.Leu121=
ENST00000498628.6:c.210G>C	ENSP00000467857.1:p.Leu70=
ENST00000530628.2:c.*7G>C	ENSP00000432664.2:n.*7G>C
ENST00000578845.2:c.210G>C	ENSP00000467390.1:p.Leu70=
ENST00000579122.1:c.363G>C	ENSP00000464202.1:p.Leu121=
ENST00000579755.1:c.*7G>C	ENSP00000462950.1:n.*7G>C
NM_000077.4:c.363G>C , LRG_11t1:c.363G>C	NP_000068.1:p.Leu121=
NM_001195132.1:c.363G>C	NP_001182061.1:p.Leu121=
NM_058195.3:c.*7G>C , LRG_11t2:c.*7G>C	NP_478102.2:n.*7G>C
NM_058197.4:c.637G>C	NP_478104.2:n.637G>C
XM_005251343.1:c.210G>C	XP_005251400.1:p.Leu70=
XM_011517675.1:c.363G>C	XP_011515977.1:p.Leu121=
XM_011517676.1:c.363G>C	XP_011515978.1:p.Leu121=
XM_011517679.1:c.210G>C	XP_011515981.1:p.Leu70=
XR_929159.1:n.764G>C
XR_929161.1:n.553G>C
XR_929162.1:n.553G>C
XR_929163.1:n.502G>C
XR_929164.1:n.285G>C
NM_001363763.1:c.210G>C	NP_001350692.1:p.Leu70=
XM_011517675.2:c.363G>C	XP_011515977.1:p.Leu121=
XM_011517676.2:c.363G>C	XP_011515978.1:p.Leu121=
XR_929159.2:n.693G>C
NM_001363763.2:c.210G>C	NP_001350692.1:p.Leu70=
NM_000077.5:c.363G>C MANE Select	NP_000068.1:p.Leu121=
NM_001195132.2:c.363G>C	NP_001182061.1:p.Leu121=
NM_058195.4:c.*7G>C MANE Plus Clinical	NP_478102.2:n.*7G>C
NM_058197.5:c.*286G>C	NP_478104.2:n.*286G>C