Canonical Allele Identifier: CA447402187
Gene: SLC26A2 HGNC NCBI

Linked Data

dbSNP Id: rs1755073650
MyVariant Identifiers: chr5:g.149359999T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980436T>C , CM000667.2:g.149980436T>C GRCh38
NC_000005.9:g.149359999T>C , CM000667.1:g.149359999T>C GRCh37
NC_000005.8:g.149340192T>C NCBI36
NG_007147.2:g.21554T>C , LRG_684:g.21554T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286298.5:c.843T>C MANE Select ENSP00000286298.4:p.Asn281=
ENST00000286298.4:c.843T>C ENSP00000286298.4:p.Asn281=
ENST00000503336.1:c.372+2085T>C ENSP00000426053.1:n.372+2085T>C
NM_000112.3:c.843T>C , LRG_684t1:c.843T>C NP_000103.2:p.Asn281=
XM_017009191.2:c.843T>C XP_016864680.1:p.Asn281=
NM_000112.4:c.843T>C MANE Select NP_000103.2:p.Asn281=