Canonical Allele Identifier: CA913108441
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149357540dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977978dup , CM000667.2:g.149977978dup GRCh38
NC_000005.9:g.149357541dup , CM000667.1:g.149357541dup GRCh37
NC_000005.8:g.149337734dup NCBI36
NG_007147.2:g.19096dup , LRG_684:g.19096dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.558dup
ENST00000286298.5:c.326dup MANE Select ENSP00000286298.4:p.Leu109PhefsTer?
ENST00000286298.4:c.326dup ENSP00000286298.4:p.Leu109PhefsTer?
NM_000112.3:c.326dup , LRG_684t1:c.326dup NP_000103.2:p.Leu109PhefsTer?
XM_017009191.2:c.326dup XP_016864680.1:p.Leu109PhefsTer?
NM_000112.4:c.326dup MANE Select NP_000103.2:p.Leu109PhefsTer?