Canonical Allele Identifier: CA361704398
Gene: SLC26A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149357430A>C (hg19) chr5:g.149977867A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977867A>C , CM000667.2:g.149977867A>C GRCh38
NC_000005.9:g.149357430A>C , CM000667.1:g.149357430A>C GRCh37
NC_000005.8:g.149337623A>C NCBI36
NG_007147.2:g.18985A>C , LRG_684:g.18985A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.447A>C
ENST00000286298.5:c.215A>C MANE Select ENSP00000286298.4:p.Lys72Thr
ENST00000286298.4:c.215A>C ENSP00000286298.4:p.Lys72Thr
NM_000112.3:c.215A>C , LRG_684t1:c.215A>C NP_000103.2:p.Lys72Thr
XM_017009191.2:c.215A>C XP_016864680.1:p.Lys72Thr
NM_000112.4:c.215A>C MANE Select NP_000103.2:p.Lys72Thr
Search 100 bp 5'
Search 100 bp 3'