Canonical Allele Identifier: CA373086378

Gene: CDKN2A

Linked Data

• gnomAD v4: 9-21971172-G-T
• MyVariant Identifiers: chr9:g.21971171G>T (hg19) ; chr9:g.21971172G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971172G>T , CM000671.2:g.21971172G>T	GRCh38
NC_000009.11:g.21971171G>T , CM000671.1:g.21971171G>T	GRCh37
NC_000009.10:g.21961171G>T	NCBI36
NG_007485.1:g.28320C>A , LRG_11:g.28320C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.187C>A MANE Select	ENSP00000307101.5:p.Leu63Met
ENST00000404796.3:c.348-58261G>T	ENSP00000385916.2:n.348-58261G>T
ENST00000579755.2:c.230C>A MANE Plus Clinical	ENSP00000462950.1:p.Ala77Asp
ENST00000304494.9:c.187C>A	ENSP00000307101.5:p.Leu63Met
ENST00000361570.4:c.230C>A	ENSP00000355153.4:p.Ala77Asp
ENST00000380150.2:n.161C>A
ENST00000380151.3:c.461C>A	ENSP00000369496.3:n.461C>A
ENST00000404796.2:c.348-58261G>T	ENSP00000385916.2:n.348-58261G>T
ENST00000479692.2:c.34C>A	ENSP00000466887.1:p.Leu12Met
ENST00000494262.5:c.34C>A	ENSP00000464952.1:p.Leu12Met
ENST00000497750.1:c.34C>A	ENSP00000468510.1:p.Leu12Met
ENST00000498124.1:c.187C>A	ENSP00000418915.1:p.Leu63Met
ENST00000498628.6:c.34C>A	ENSP00000467857.1:p.Leu12Met
ENST00000530628.2:c.230C>A	ENSP00000432664.2:p.Ala77Asp
ENST00000578845.2:c.34C>A	ENSP00000467390.1:p.Leu12Met
ENST00000579122.1:c.187C>A	ENSP00000464202.1:p.Leu63Met
ENST00000579755.1:c.230C>A	ENSP00000462950.1:p.Ala77Asp
NM_000077.4:c.187C>A , LRG_11t1:c.187C>A	NP_000068.1:p.Leu63Met
NM_001195132.1:c.187C>A	NP_001182061.1:p.Leu63Met
NM_058195.3:c.230C>A , LRG_11t2:c.230C>A	NP_478102.2:p.Ala77Asp
NM_058197.4:c.461C>A	NP_478104.2:n.461C>A
XM_005251343.1:c.34C>A	XP_005251400.1:p.Leu12Met
XM_011517675.1:c.187C>A	XP_011515977.1:p.Leu63Met
XM_011517676.1:c.187C>A	XP_011515978.1:p.Leu63Met
XM_011517679.1:c.34C>A	XP_011515981.1:p.Leu12Met
XR_929159.1:n.588C>A
XR_929161.1:n.377C>A
XR_929162.1:n.377C>A
XR_929163.1:n.326C>A
XR_929164.1:n.109C>A
NM_001363763.1:c.34C>A	NP_001350692.1:p.Leu12Met
XM_011517675.2:c.187C>A	XP_011515977.1:p.Leu63Met
XM_011517676.2:c.187C>A	XP_011515978.1:p.Leu63Met
XR_929159.2:n.517C>A
NM_001363763.2:c.34C>A	NP_001350692.1:p.Leu12Met
NM_000077.5:c.187C>A MANE Select	NP_000068.1:p.Leu63Met
NM_001195132.2:c.187C>A	NP_001182061.1:p.Leu63Met
NM_058195.4:c.230C>A MANE Plus Clinical	NP_478102.2:p.Ala77Asp
NM_058197.5:c.*110C>A	NP_478104.2:n.*110C>A