Canonical Allele Identifier: CA5012105

Gene: CDKN2A

Linked Data

• dbSNP Id: rs758006557
• ExAC: 9:21968161 C / G
• gnomAD v2: 9-21968161-C-G
• gnomAD v4: 9-21968162-C-G
• MyVariant Identifiers: chr9:g.21968161C>G (hg19) ; chr9:g.21968162C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968162C>G , CM000671.2:g.21968162C>G	GRCh38
NC_000009.11:g.21968161C>G , CM000671.1:g.21968161C>G	GRCh37
NC_000009.10:g.21958161C>G	NCBI36
NG_007485.1:g.31330G>C , LRG_11:g.31330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*67G>C MANE Select	ENSP00000307101.5:n.*67G>C
ENST00000404796.3:c.348-61271C>G	ENSP00000385916.2:n.348-61271C>G
ENST00000579755.2:c.*182G>C MANE Plus Clinical	ENSP00000462950.1:n.*182G>C
ENST00000304494.9:c.*67G>C	ENSP00000307101.5:n.*67G>C
ENST00000361570.4:c.*67G>C	ENSP00000355153.4:n.*67G>C
ENST00000404796.2:c.348-61271C>G	ENSP00000385916.2:n.348-61271C>G
ENST00000498124.1:c.*231G>C	ENSP00000418915.1:n.*231G>C
ENST00000498628.6:c.*67G>C	ENSP00000467857.1:n.*67G>C
ENST00000530628.2:c.*108G>C	ENSP00000432664.2:n.*108G>C
ENST00000578845.2:c.*67G>C	ENSP00000467390.1:n.*67G>C
ENST00000579122.1:c.*47G>C	ENSP00000464202.1:n.*47G>C
ENST00000579755.1:c.*182G>C	ENSP00000462950.1:n.*182G>C
NM_000077.4:c.*67G>C , LRG_11t1:c.*67G>C	NP_000068.1:n.*67G>C
NM_001195132.1:c.*231G>C	NP_001182061.1:n.*231G>C
NM_058195.3:c.*182G>C , LRG_11t2:c.*182G>C	NP_478102.2:n.*182G>C
NM_058197.4:c.812G>C	NP_478104.2:n.812G>C
XM_005251343.1:c.*67G>C	XP_005251400.1:n.*67G>C
XM_011517679.1:c.*67G>C	XP_011515981.1:n.*67G>C
NM_001363763.1:c.*67G>C	NP_001350692.1:n.*67G>C
NM_001363763.2:c.*67G>C	NP_001350692.1:n.*67G>C
NM_000077.5:c.*67G>C MANE Select	NP_000068.1:n.*67G>C
NM_001195132.2:c.*231G>C	NP_001182061.1:n.*231G>C
NM_058195.4:c.*182G>C MANE Plus Clinical	NP_478102.2:n.*182G>C
NM_058197.5:c.*461G>C	NP_478104.2:n.*461G>C