Canonical Allele Identifier: CA361708310
Gene: SLC26A2 HGNC NCBI

Linked Data

gnomAD v4: 5-149981241-A-C
MyVariant Identifiers: chr5:g.149360804A>C (hg19) chr5:g.149981241A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981241A>C , CM000667.2:g.149981241A>C GRCh38
NC_000005.9:g.149360804A>C , CM000667.1:g.149360804A>C GRCh37
NC_000005.8:g.149340997A>C NCBI36
NG_007147.2:g.22359A>C , LRG_684:g.22359A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.1648A>C MANE Select ENSP00000286298.4:p.Lys550Gln
ENST00000286298.4:c.1648A>C ENSP00000286298.4:p.Lys550Gln
ENST00000503336.1:c.372+2890A>C ENSP00000426053.1:n.372+2890A>C
NM_000112.3:c.1648A>C , LRG_684t1:c.1648A>C NP_000103.2:p.Lys550Gln
XM_017009191.2:c.1648A>C XP_016864680.1:p.Lys550Gln
NM_000112.4:c.1648A>C MANE Select NP_000103.2:p.Lys550Gln
Search 100 bp 5'
Search 100 bp 3'