Canonical Allele Identifier: CA1590737391
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149978073C= , CM000667.2:g.149978073C= GRCh38
NC_000005.9:g.149357636C= , CM000667.1:g.149357636C= GRCh37
NC_000005.8:g.149337829C= NCBI36
NG_007147.2:g.19191C= , LRG_684:g.19191C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000690410.1:n.653C=
ENST00000286298.5:c.421C= MANE Select ENSP00000286298.4:p.Leu141=
ENST00000286298.4:c.421C= ENSP00000286298.4:p.Leu141=
ENST00000503336.1:c.94C= ENSP00000426053.1:p.Leu32=
NM_000112.3:c.421C= , LRG_684t1:c.421C= NP_000103.2:p.Leu141=
XM_017009191.2:c.421C= XP_016864680.1:p.Leu141=
NM_000112.4:c.421C= MANE Select NP_000103.2:p.Leu141=