Canonical Allele Identifier: CA6927082
Gene: LNX2 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.27569071C>T
GRCh37 chr13:g.28143208C>T
Revel Score:
ENST00000316334 (MANE Select) 0.236
gnomAD v2:
13:28143208 C / T
gnomAD v3:
13:27569071 C / T
gnomAD v4:
chr13-27569071-C-T
Joint Max Group AF 0.00000124 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV004152782
ClinVar Variation:
2304211
dbSNP:
373989400
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27569071C>T , CM000675.2:g.27569071C>T GRCh38
NC_000013.10:g.28143208C>T , CM000675.1:g.28143208C>T GRCh37
NC_000013.9:g.27041208C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316334.5:c.613G>A MANE Select ENSP00000325929.3:p.Gly205Ser
ENST00000649248.1:c.613G>A ENSP00000497224.1:p.Gly205Ser
ENST00000316334.4:c.613G>A ENSP00000325929.3:p.Gly205Ser
NM_153371.3:c.613G>A NP_699202.1:p.Gly205Ser
XM_011534995.1:c.613G>A XP_011533297.1:p.Gly205Ser
XM_011534995.2:c.613G>A XP_011533297.1:p.Gly205Ser
XM_017020434.1:c.613G>A XP_016875923.1:p.Gly205Ser
NM_153371.4:c.613G>A MANE Select NP_699202.1:p.Gly205Ser
Search 100 bp 5'
Search 100 bp 3'