Canonical Allele Identifier: CA361705125
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1381904339
gnomAD v2: 5-149357718-T-C
gnomAD v4: 5-149978155-T-C
MyVariant Identifiers: chr5:g.149357718T>C (hg19) chr5:g.149978155T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978155T>C , CM000667.2:g.149978155T>C GRCh38
NC_000005.9:g.149357718T>C , CM000667.1:g.149357718T>C GRCh37
NC_000005.8:g.149337911T>C NCBI36
NG_007147.2:g.19273T>C , LRG_684:g.19273T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.735T>C
ENST00000286298.5:c.503T>C MANE Select ENSP00000286298.4:p.Leu168Pro
ENST00000286298.4:c.503T>C ENSP00000286298.4:p.Leu168Pro
ENST00000503336.1:c.176T>C ENSP00000426053.1:p.Leu59Pro
NM_000112.3:c.503T>C , LRG_684t1:c.503T>C NP_000103.2:p.Leu168Pro
XM_017009191.2:c.503T>C XP_016864680.1:p.Leu168Pro
NM_000112.4:c.503T>C MANE Select NP_000103.2:p.Leu168Pro
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