Canonical Allele Identifier: CA1590737360
Community Standard Title: NM_000112.4(SLC26A2):c.331G= (p.Asp111=)
Gene: SLC26A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977983G= , CM000667.2:g.149977983G= GRCh38
NC_000005.9:g.149357546G= , CM000667.1:g.149357546G= GRCh37
NC_000005.8:g.149337739G= NCBI36
NG_007147.2:g.19101G= , LRG_684:g.19101G=

Transcript Alleles

HGVS Amino-acid Change
NM_000112.4:c.331G= MANE Select NP_000103.2:p.Asp111=
ENST00000286298.5:c.331G= MANE Select ENSP00000286298.4:p.Asp111=
NM_000112.3:c.331G= , LRG_684t1:c.331G= NP_000103.2:p.Asp111=
ENST00000286298.4:c.331G= ENSP00000286298.4:p.Asp111=
ENST00000503336.1:c.4G= ENSP00000426053.1:p.Asp2=
ENST00000690410.1:n.563G=
XM_017009191.2:c.331G= XP_016864680.1:p.Asp111=