Canonical Allele Identifier: CA361704420
Gene: SLC26A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149977872C>G , CM000667.2:g.149977872C>G GRCh38
NC_000005.9:g.149357435C>G , CM000667.1:g.149357435C>G GRCh37
NC_000005.8:g.149337628C>G NCBI36
NG_007147.2:g.18990C>G , LRG_684:g.18990C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000690410.1:n.452C>G
ENST00000286298.5:c.220C>G MANE Select ENSP00000286298.4:p.Leu74Val
ENST00000286298.4:c.220C>G ENSP00000286298.4:p.Leu74Val
NM_000112.3:c.220C>G , LRG_684t1:c.220C>G NP_000103.2:p.Leu74Val
XM_017009191.2:c.220C>G XP_016864680.1:p.Leu74Val
NM_000112.4:c.220C>G MANE Select NP_000103.2:p.Leu74Val