Canonical Allele Identifier: CA16612703

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 414095
• ClinVar RCV Id: RCV000476680 ; RCV001177304
• dbSNP Id: rs1060504187
• gnomAD v4: 9-21971032-G-C
• MyVariant Identifiers: chr9:g.21971031G>C (hg19) ; chr9:g.21971032G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971032G>C , CM000671.2:g.21971032G>C	GRCh38
NC_000009.11:g.21971031G>C , CM000671.1:g.21971031G>C	GRCh37
NC_000009.10:g.21961031G>C	NCBI36
NG_007485.1:g.28460C>G , LRG_11:g.28460C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.327C>G MANE Select	ENSP00000307101.5:p.Ala109=
ENST00000404796.3:c.348-58401G>C	ENSP00000385916.2:n.348-58401G>C
ENST00000579755.2:c.370C>G MANE Plus Clinical	ENSP00000462950.1:p.Leu124Val
ENST00000304494.9:c.327C>G	ENSP00000307101.5:p.Ala109=
ENST00000361570.4:c.369C>G	ENSP00000355153.4:p.Ala123=
ENST00000380150.2:n.301C>G
ENST00000380151.3:c.601C>G	ENSP00000369496.3:n.601C>G
ENST00000404796.2:c.348-58401G>C	ENSP00000385916.2:n.348-58401G>C
ENST00000479692.2:c.174C>G	ENSP00000466887.1:p.Ala58=
ENST00000494262.5:c.174C>G	ENSP00000464952.1:p.Ala58=
ENST00000497750.1:c.174C>G	ENSP00000468510.1:p.Ala58=
ENST00000498124.1:c.327C>G	ENSP00000418915.1:p.Ala109=
ENST00000498628.6:c.174C>G	ENSP00000467857.1:p.Ala58=
ENST00000530628.2:c.370C>G	ENSP00000432664.2:p.Leu124Val
ENST00000578845.2:c.174C>G	ENSP00000467390.1:p.Ala58=
ENST00000579122.1:c.327C>G	ENSP00000464202.1:p.Ala109=
ENST00000579755.1:c.370C>G	ENSP00000462950.1:p.Leu124Val
NM_000077.4:c.327C>G , LRG_11t1:c.327C>G	NP_000068.1:p.Ala109=
NM_001195132.1:c.327C>G	NP_001182061.1:p.Ala109=
NM_058195.3:c.370C>G , LRG_11t2:c.370C>G	NP_478102.2:p.Leu124Val
NM_058197.4:c.601C>G	NP_478104.2:n.601C>G
XM_005251343.1:c.174C>G	XP_005251400.1:p.Ala58=
XM_011517675.1:c.327C>G	XP_011515977.1:p.Ala109=
XM_011517676.1:c.327C>G	XP_011515978.1:p.Ala109=
XM_011517679.1:c.174C>G	XP_011515981.1:p.Ala58=
XR_929159.1:n.728C>G
XR_929161.1:n.517C>G
XR_929162.1:n.517C>G
XR_929163.1:n.466C>G
XR_929164.1:n.249C>G
NM_001363763.1:c.174C>G	NP_001350692.1:p.Ala58=
XM_011517675.2:c.327C>G	XP_011515977.1:p.Ala109=
XM_011517676.2:c.327C>G	XP_011515978.1:p.Ala109=
XR_929159.2:n.657C>G
NM_001363763.2:c.174C>G	NP_001350692.1:p.Ala58=
NM_000077.5:c.327C>G MANE Select	NP_000068.1:p.Ala109=
NM_001195132.2:c.327C>G	NP_001182061.1:p.Ala109=
NM_058195.4:c.370C>G MANE Plus Clinical	NP_478102.2:p.Leu124Val
NM_058197.5:c.*250C>G	NP_478104.2:n.*250C>G