Canonical Allele Identifier: CA2718836868

Gene: CDKN2A

Linked Data

• dbSNP Id: rs780207215

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974857C>G , CM000671.2:g.21974857C>G	GRCh38
NC_000009.11:g.21974856C>G , CM000671.1:g.21974856C>G	GRCh37
NC_000009.10:g.21964856C>G	NCBI36
NG_007485.1:g.24635G>C , LRG_11:g.24635G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.-30G>C MANE Select	ENSP00000307101.5:n.-30G>C
ENST00000404796.3:c.348-54576C>G	ENSP00000385916.2:n.348-54576C>G
ENST00000579755.2:c.194-3649G>C MANE Plus Clinical	ENSP00000462950.1:n.194-3649G>C
ENST00000304494.9:c.-30G>C	ENSP00000307101.5:n.-30G>C
ENST00000361570.4:c.194-3649G>C	ENSP00000355153.4:n.194-3649G>C
ENST00000404796.2:c.348-54576C>G	ENSP00000385916.2:n.348-54576C>G
ENST00000494262.5:c.-3-3649G>C	ENSP00000464952.1:n.-3-3649G>C
ENST00000498124.1:c.-30G>C	ENSP00000418915.1:n.-30G>C
ENST00000498628.6:c.-3-3649G>C	ENSP00000467857.1:n.-3-3649G>C
ENST00000530628.2:c.194-3649G>C	ENSP00000432664.2:n.194-3649G>C
ENST00000579122.1:c.-30G>C	ENSP00000464202.1:n.-30G>C
ENST00000579755.1:c.194-3649G>C	ENSP00000462950.1:n.194-3649G>C
NM_000077.4:c.-30G>C , LRG_11t1:c.-30G>C	NP_000068.1:n.-30G>C
NM_001195132.1:c.-30G>C	NP_001182061.1:n.-30G>C
NM_058195.3:c.194-3649G>C , LRG_11t2:c.194-3649G>C	NP_478102.2:n.194-3649G>C
XM_011517675.1:c.-30G>C	XP_011515977.1:n.-30G>C
XM_011517676.1:c.-30G>C	XP_011515978.1:n.-30G>C
XM_011517679.1:c.-3-3649G>C	XP_011515981.1:n.-3-3649G>C
XR_929159.1:n.372G>C
XR_929161.1:n.341-3649G>C
XR_929162.1:n.341-3649G>C
XR_929163.1:n.290-3649G>C
NM_001363763.1:c.-3-3649G>C	NP_001350692.1:n.-3-3649G>C
XM_011517675.2:c.-30G>C	XP_011515977.1:n.-30G>C
XM_011517676.2:c.-30G>C	XP_011515978.1:n.-30G>C
XR_929159.2:n.301G>C
NM_001363763.2:c.-3-3649G>C	NP_001350692.1:n.-3-3649G>C
NM_000077.5:c.-30G>C MANE Select	NP_000068.1:n.-30G>C
NM_001195132.2:c.-30G>C	NP_001182061.1:n.-30G>C
NM_058195.4:c.194-3649G>C MANE Plus Clinical	NP_478102.2:n.194-3649G>C
NM_058197.5:c.-30G>C	NP_478104.2:n.-30G>C