Canonical Allele Identifier: CA3505295
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs762335143
ExAC: 5:149357923 C / CAATGAAACAATTGGTTATTTCTAGAAAAGT
gnomAD v2: 5-149357923-C-CAATGAAACAATTGGTTATTTCTAGAAAAGT
gnomAD v4: 5-149978360-C-CAATGAAACAATTGGTTATTTCTAGAAAAGT
MyVariant Identifiers: chr5:g.149357923_149357924insAATGAAACAATTGGTTATTTCTAGAAAAGT (hg19) chr5:g.149978360_149978361insAATGAAACAATTGGTTATTTCTAGAAAAGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978364_149978393dup , CM000667.2:g.149978364_149978393dup GRCh38
NC_000005.9:g.149357927_149357956dup , CM000667.1:g.149357927_149357956dup GRCh37
NC_000005.8:g.149338120_149338149dup NCBI36
NG_007147.2:g.19482_19511dup , LRG_684:g.19482_19511dup

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.944_973dup
ENST00000286298.5:c.699+13_699+42dup MANE Select ENSP00000286298.4:n.699+13_699+42dup
ENST00000286298.4:c.699+13_699+42dup ENSP00000286298.4:n.699+13_699+42dup
ENST00000503336.1:c.372+13_372+42dup ENSP00000426053.1:n.372+13_372+42dup
NM_000112.3:c.699+13_699+42dup , LRG_684t1:c.699+13_699+42dup NP_000103.2:n.699+13_699+42dup
XM_017009191.2:c.699+13_699+42dup XP_016864680.1:n.699+13_699+42dup
NM_000112.4:c.699+13_699+42dup MANE Select NP_000103.2:n.699+13_699+42dup
Search 100 bp 5'
Search 100 bp 3'