Canonical Allele Identifier: CA361709527
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs751334225
gnomAD v4: 5-149981559-A-C
MyVariant Identifiers: chr5:g.149361122A>C (hg19) chr5:g.149981559A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981559A>C , CM000667.2:g.149981559A>C GRCh38
NC_000005.9:g.149361122A>C , CM000667.1:g.149361122A>C GRCh37
NC_000005.8:g.149341315A>C NCBI36
NG_007147.2:g.22677A>C , LRG_684:g.22677A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.1966A>C MANE Select ENSP00000286298.4:p.Ile656Leu
ENST00000286298.4:c.1966A>C ENSP00000286298.4:p.Ile656Leu
ENST00000503336.1:c.372+3208A>C ENSP00000426053.1:n.372+3208A>C
NM_000112.3:c.1966A>C , LRG_684t1:c.1966A>C NP_000103.2:p.Ile656Leu
XM_017009191.2:c.1966A>C XP_016864680.1:p.Ile656Leu
NM_000112.4:c.1966A>C MANE Select NP_000103.2:p.Ile656Leu
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