LDH info

Canonical Allele Identifier: CA126280
Gene: GABRA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16218
ClinVar RCV Id: RCV000017605
dbSNP Id: rs279871

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46303716T>C , CM000666.2:g.46303716T>C GRCh38
NC_000004.11:g.46305733T>C , CM000666.1:g.46305733T>C GRCh37
NC_000004.10:g.46000490T>C NCBI36
NG_012835.1:g.91324A>G
NG_012835.2:g.91324A>G

Transcript Alleles

HGVS Amino-acid change
NM_000807.2:c.704-104A>G VV NP_000798.2:p.=
NM_001114175.1:c.704-104A>G VV NP_001107647.1:p.=
NM_001286827.1:c.539-104A>G VV NP_001273756.1:p.=
XM_005248080.2:c.539-104A>G XP_005248137.1:p.=
XM_011513675.1:c.704-104A>G XP_011511977.1:p.=
XM_011513676.1:c.704-104A>G XP_011511978.1:p.=
NM_000807.3:c.704-104A>G VV NP_000798.2:p.=
NM_001114175.2:c.704-104A>G VV NP_001107647.1:p.=
NM_001286827.2:c.539-104A>G VV NP_001273756.1:p.=
NM_001330690.1:c.704-104A>G VV NP_001317619.1:p.=
XM_017007982.2:c.704-104A>G XP_016863471.1:p.=
XM_017007983.2:c.704-104A>G XP_016863472.1:p.=
XM_024453963.1:c.704-104A>G XP_024309731.1:p.=
XM_024453964.1:c.704-104A>G XP_024309732.1:p.=
XM_024453965.1:c.704-104A>G XP_024309733.1:p.=
XM_024453966.1:c.704-104A>G XP_024309734.1:p.=
XM_024453967.1:c.704-104A>G XP_024309735.1:p.=
XM_024453968.1:c.704-104A>G XP_024309736.1:p.=
XM_024453969.1:c.704-104A>G XP_024309737.1:p.=
XM_024453970.1:c.704-104A>G XP_024309738.1:p.=
XM_024453971.1:c.704-104A>G XP_024309739.1:p.=
XM_024453972.1:c.539-104A>G XP_024309740.1:p.=
XM_024453973.1:c.539-104A>G XP_024309741.1:p.=
XM_024453974.1:c.539-104A>G XP_024309742.1:p.=
ENST00000356504.5:c.704-104A>G ENSP00000348897.1:p.=
ENST00000381620.8:c.704-104A>G ENSP00000371033.4:p.=
ENST00000507069.5:c.704-104A>G ENSP00000427603.1:p.=
ENST00000510233.5:c.477-104A>G ENSP00000422642.1:p.=
ENST00000510861.5:c.704-104A>G ENSP00000421828.1:p.=
ENST00000513005.5:c.*290+6457A>G ENSP00000421639.1:p.=
ENST00000514090.5:c.704-104A>G ENSP00000421300.1:p.=
ENST00000514236.1:n.11-104A>G ENSP00000425240.1:p.=
ENST00000515082.5:c.704-104A>G ENSP00000423840.1:p.=
ENST00000540012.5:c.452-104A>G ENSP00000444409.2:p.=
ENST00000630416.2:c.*435-104A>G ENSP00000486333.1:p.=