Canonical Allele Identifier: CA129084967
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs954088228
gnomAD v3: 5-149981868-A-T
gnomAD v4: 5-149981868-A-T
MyVariant Identifiers: chr5:g.149361431A>T (hg19) chr5:g.149981868A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981868A>T , CM000667.2:g.149981868A>T GRCh38
NC_000005.9:g.149361431A>T , CM000667.1:g.149361431A>T GRCh37
NC_000005.8:g.149341624A>T NCBI36
NG_007147.2:g.22986A>T , LRG_684:g.22986A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.*55A>T MANE Select ENSP00000286298.4:n.*55A>T
ENST00000286298.4:c.*55A>T ENSP00000286298.4:n.*55A>T
ENST00000503336.1:c.372+3517A>T ENSP00000426053.1:n.372+3517A>T
NM_000112.3:c.*55A>T , LRG_684t1:c.*55A>T NP_000103.2:n.*55A>T
XM_017009191.2:c.*12+43A>T XP_016864680.1:n.*12+43A>T
NM_000112.4:c.*55A>T MANE Select NP_000103.2:n.*55A>T
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