Canonical Allele Identifier: CA3505494
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs763259050
ExAC: 5:149360957 A / G
gnomAD v2: 5-149360957-A-G
gnomAD v3: 5-149981394-A-G
gnomAD v4: 5-149981394-A-G
MyVariant Identifiers: chr5:g.149360957A>G (hg19) chr5:g.149981394A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981394A>G , CM000667.2:g.149981394A>G GRCh38
NC_000005.9:g.149360957A>G , CM000667.1:g.149360957A>G GRCh37
NC_000005.8:g.149341150A>G NCBI36
NG_007147.2:g.22512A>G , LRG_684:g.22512A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1801A>G MANE Select ENSP00000286298.4:p.Lys601Glu
ENST00000286298.4:c.1801A>G ENSP00000286298.4:p.Lys601Glu
ENST00000503336.1:c.372+3043A>G ENSP00000426053.1:n.372+3043A>G
NM_000112.3:c.1801A>G , LRG_684t1:c.1801A>G NP_000103.2:p.Lys601Glu
XM_017009191.2:c.1801A>G XP_016864680.1:p.Lys601Glu
NM_000112.4:c.1801A>G MANE Select NP_000103.2:p.Lys601Glu
Search 100 bp 5'
Search 100 bp 3'