LDH info

Canonical Allele Identifier: CA120402
Gene: CDKN2A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9423
dbSNP Id: rs104894099
COSMIC: COSM13818

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21971183A>C , CM000671.2:g.21971183A>C GRCh38
NC_000009.11:g.21971182A>C , CM000671.1:g.21971182A>C GRCh37
NC_000009.10:g.21961182A>C NCBI36
NG_007485.1:g.28309T>G , LRG_11:g.28309T>G

Transcript Alleles

HGVS Amino-acid change
NM_000077.4:c.176T>G , LRG_11t1:c.176T>G NP_000068.1:p.Val59Gly
NM_001195132.1:c.176T>G VV NP_001182061.1:p.Val59Gly
NM_058195.3:c.219T>G , LRG_11t2:c.219T>G NP_478102.2:p.Ser73Arg
NM_058197.4:n.450T>G VV NP_478104.2:p.=
XM_005251343.1:c.23T>G XP_005251400.1:p.Val8Gly
XM_011517675.1:c.176T>G XP_011515977.1:p.Val59Gly
XM_011517676.1:c.176T>G XP_011515978.1:p.Val59Gly
XM_011517679.1:c.23T>G XP_011515981.1:p.Val8Gly
XR_929159.1:n.577T>G
XR_929161.1:n.366T>G
XR_929162.1:n.366T>G
XR_929163.1:n.315T>G
XR_929164.1:n.98T>G
NM_001363763.1:c.23T>G VV NP_001350692.1:p.Val8Gly
XM_011517675.2:c.176T>G XP_011515977.1:p.Val59Gly
XM_011517676.2:c.176T>G XP_011515978.1:p.Val59Gly
XR_929159.2:n.506T>G
ENST00000304494.9:c.176T>G ENSP00000307101.5:p.Val59Gly
ENST00000361570.4:c.219T>G ENSP00000355153.4:p.Ser73Arg
ENST00000380150.2:n.150T>G
ENST00000380151.3:n.450T>G ENSP00000369496.3:p.=
ENST00000404796.2:c.348-58250A>C ENSP00000385916.2:p.=
ENST00000479692.2:c.23T>G ENSP00000466887.1:p.Val8Gly
ENST00000494262.5:c.23T>G ENSP00000464952.1:p.Val8Gly
ENST00000497750.1:c.23T>G ENSP00000468510.1:p.Val8Gly
ENST00000498124.1:c.176T>G ENSP00000418915.1:p.Val59Gly
ENST00000498628.6:c.23T>G ENSP00000467857.1:p.Val8Gly
ENST00000530628.2:c.219T>G ENSP00000432664.2:p.Ser73Arg
ENST00000578845.2:c.23T>G ENSP00000467390.1:p.Val8Gly
ENST00000579122.1:c.176T>G ENSP00000464202.1:p.Val59Gly
ENST00000579755.1:c.219T>G ENSP00000462950.1:p.Ser73Arg