LDH info

Canonical Allele Identifier: CA16602756
Gene: CDKN2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 376310
dbSNP Id: rs121913387

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971187G>A , CM000671.2:g.21971187G>A GRCh38
NC_000009.11:g.21971186G>A , CM000671.1:g.21971186G>A GRCh37
NC_000009.10:g.21961186G>A NCBI36
NG_007485.1:g.28305C>T , LRG_11:g.28305C>T

Transcript Alleles

HGVS Amino-acid change
NM_000077.4:c.172C>T , LRG_11t1:c.172C>T NP_000068.1:p.Arg58Ter
NM_001195132.1:c.172C>T VV NP_001182061.1:p.Arg58Ter
NM_058195.3:c.215C>T , LRG_11t2:c.215C>T NP_478102.2:p.Pro72Leu
NM_058197.4:n.446C>T VV NP_478104.2:p.=
XM_005251343.1:c.19C>T XP_005251400.1:p.Arg7Ter
XM_011517675.1:c.172C>T XP_011515977.1:p.Arg58Ter
XM_011517676.1:c.172C>T XP_011515978.1:p.Arg58Ter
XM_011517679.1:c.19C>T XP_011515981.1:p.Arg7Ter
XR_929159.1:n.573C>T
XR_929161.1:n.362C>T
XR_929162.1:n.362C>T
XR_929163.1:n.311C>T
XR_929164.1:n.94C>T
NM_001363763.1:c.19C>T VV NP_001350692.1:p.Arg7Ter
XM_011517675.2:c.172C>T XP_011515977.1:p.Arg58Ter
XM_011517676.2:c.172C>T XP_011515978.1:p.Arg58Ter
XR_929159.2:n.502C>T
ENST00000304494.9:c.172C>T ENSP00000307101.5:p.Arg58Ter
ENST00000361570.4:c.215C>T ENSP00000355153.4:p.Pro72Leu
ENST00000380150.2:n.146C>T
ENST00000380151.3:n.446C>T ENSP00000369496.3:p.=
ENST00000404796.2:c.348-58246G>A ENSP00000385916.2:p.=
ENST00000479692.2:c.19C>T ENSP00000466887.1:p.Arg7Ter
ENST00000494262.5:c.19C>T ENSP00000464952.1:p.Arg7Ter
ENST00000497750.1:c.19C>T ENSP00000468510.1:p.Arg7Ter
ENST00000498124.1:c.172C>T ENSP00000418915.1:p.Arg58Ter
ENST00000498628.6:c.19C>T ENSP00000467857.1:p.Arg7Ter
ENST00000530628.2:c.215C>T ENSP00000432664.2:p.Pro72Leu
ENST00000578845.2:c.19C>T ENSP00000467390.1:p.Arg7Ter
ENST00000579122.1:c.172C>T ENSP00000464202.1:p.Arg58Ter
ENST00000579755.1:c.215C>T ENSP00000462950.1:p.Pro72Leu