Canonical Allele Identifier: CA447402060
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149357755A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978192A>C , CM000667.2:g.149978192A>C GRCh38
NC_000005.9:g.149357755A>C , CM000667.1:g.149357755A>C GRCh37
NC_000005.8:g.149337948A>C NCBI36
NG_007147.2:g.19310A>C , LRG_684:g.19310A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.772A>C
ENST00000286298.5:c.540A>C MANE Select ENSP00000286298.4:p.Leu180=
ENST00000286298.4:c.540A>C ENSP00000286298.4:p.Leu180=
ENST00000503336.1:c.213A>C ENSP00000426053.1:p.Leu71=
NM_000112.3:c.540A>C , LRG_684t1:c.540A>C NP_000103.2:p.Leu180=
XM_017009191.2:c.540A>C XP_016864680.1:p.Leu180=
NM_000112.4:c.540A>C MANE Select NP_000103.2:p.Leu180=
Search 100 bp 5'
Search 100 bp 3'