Canonical Allele Identifier: CA3505504
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs115620919
ExAC: 5:149361001 G / C
gnomAD v2: 5-149361001-G-C
gnomAD v3: 5-149981438-G-C
gnomAD v4: 5-149981438-G-C
MyVariant Identifiers: chr5:g.149361001G>C (hg19) chr5:g.149981438G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981438G>C , CM000667.2:g.149981438G>C GRCh38
NC_000005.9:g.149361001G>C , CM000667.1:g.149361001G>C GRCh37
NC_000005.8:g.149341194G>C NCBI36
NG_007147.2:g.22556G>C , LRG_684:g.22556G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1845G>C MANE Select ENSP00000286298.4:p.Lys615Asn
ENST00000286298.4:c.1845G>C ENSP00000286298.4:p.Lys615Asn
ENST00000503336.1:c.372+3087G>C ENSP00000426053.1:n.372+3087G>C
NM_000112.3:c.1845G>C , LRG_684t1:c.1845G>C NP_000103.2:p.Lys615Asn
XM_017009191.2:c.1845G>C XP_016864680.1:p.Lys615Asn
NM_000112.4:c.1845G>C MANE Select NP_000103.2:p.Lys615Asn
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