Canonical Allele Identifier: CA361704985
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149357650T>G (hg19) chr5:g.149978087T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978087T>G , CM000667.2:g.149978087T>G GRCh38
NC_000005.9:g.149357650T>G , CM000667.1:g.149357650T>G GRCh37
NC_000005.8:g.149337843T>G NCBI36
NG_007147.2:g.19205T>G , LRG_684:g.19205T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.667T>G
ENST00000286298.5:c.435T>G MANE Select ENSP00000286298.4:p.Phe145Leu
ENST00000286298.4:c.435T>G ENSP00000286298.4:p.Phe145Leu
ENST00000503336.1:c.108T>G ENSP00000426053.1:p.Phe36Leu
NM_000112.3:c.435T>G , LRG_684t1:c.435T>G NP_000103.2:p.Phe145Leu
XM_017009191.2:c.435T>G XP_016864680.1:p.Phe145Leu
NM_000112.4:c.435T>G MANE Select NP_000103.2:p.Phe145Leu
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