Canonical Allele Identifier: CA361708836
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1299733113
gnomAD v2: 5-149360956-C-G
gnomAD v4: 5-149981393-C-G
MyVariant Identifiers: chr5:g.149360956C>G (hg19) chr5:g.149981393C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149981393C>G , CM000667.2:g.149981393C>G GRCh38
NC_000005.9:g.149360956C>G , CM000667.1:g.149360956C>G GRCh37
NC_000005.8:g.149341149C>G NCBI36
NG_007147.2:g.22511C>G , LRG_684:g.22511C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.1800C>G MANE Select ENSP00000286298.4:p.Tyr600Ter
ENST00000286298.4:c.1800C>G ENSP00000286298.4:p.Tyr600Ter
ENST00000503336.1:c.372+3042C>G ENSP00000426053.1:n.372+3042C>G
NM_000112.3:c.1800C>G , LRG_684t1:c.1800C>G NP_000103.2:p.Tyr600Ter
XM_017009191.2:c.1800C>G XP_016864680.1:p.Tyr600Ter
NM_000112.4:c.1800C>G MANE Select NP_000103.2:p.Tyr600Ter
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