Canonical Allele Identifier: CA227147209
Gene: MAML2 HGNC NCBI

Linked Data

dbSNP Id: rs1019439534
gnomAD v3: 11-96258975-A-G
gnomAD v4: 11-96258975-A-G
MyVariant Identifiers: chr11:g.95992139A>G (hg19) chr11:g.96258975A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.96258975A>G , CM000673.2:g.96258975A>G GRCh38
NC_000011.9:g.95992139A>G , CM000673.1:g.95992139A>G GRCh37
NC_000011.8:g.95631787A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000524717.6:c.513+82408T>C MANE Select ENSP00000434552.1:n.513+82408T>C
ENST00000524717.5:c.513+82408T>C ENSP00000434552.1:n.513+82408T>C
NM_032427.3:c.513+82408T>C NP_115803.1:n.513+82408T>C
XM_011543024.1:c.-172+83933T>C XP_011541326.1:n.-172+83933T>C
XM_011543025.1:c.513+82408T>C XP_011541327.1:n.513+82408T>C
XM_011543024.3:c.-172+83933T>C XP_011541326.1:n.-172+83933T>C
XM_011543025.2:c.513+82408T>C XP_011541327.1:n.513+82408T>C
NM_032427.4:c.513+82408T>C MANE Select NP_115803.1:n.513+82408T>C
Search 100 bp 5'
Search 100 bp 3'