Canonical Allele Identifier: CA447401816
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149357428T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977865T>C , CM000667.2:g.149977865T>C GRCh38
NC_000005.9:g.149357428T>C , CM000667.1:g.149357428T>C GRCh37
NC_000005.8:g.149337621T>C NCBI36
NG_007147.2:g.18983T>C , LRG_684:g.18983T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.445T>C
ENST00000286298.5:c.213T>C MANE Select ENSP00000286298.4:p.Ile71=
ENST00000286298.4:c.213T>C ENSP00000286298.4:p.Ile71=
NM_000112.3:c.213T>C , LRG_684t1:c.213T>C NP_000103.2:p.Ile71=
XM_017009191.2:c.213T>C XP_016864680.1:p.Ile71=
NM_000112.4:c.213T>C MANE Select NP_000103.2:p.Ile71=