Canonical Allele Identifier: CA361706482

Gene: SLC26A2

Linked Data

• MyVariant Identifiers: chr5:g.149360038C>G (hg19) ; chr5:g.149980475C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980475C>G , CM000667.2:g.149980475C>G	GRCh38
NC_000005.9:g.149360038C>G , CM000667.1:g.149360038C>G	GRCh37
NC_000005.8:g.149340231C>G	NCBI36
NG_007147.2:g.21593C>G , LRG_684:g.21593C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.882C>G MANE Select	ENSP00000286298.4:p.Phe294Leu
ENST00000286298.4:c.882C>G	ENSP00000286298.4:p.Phe294Leu
ENST00000503336.1:c.372+2124C>G	ENSP00000426053.1:n.372+2124C>G
NM_000112.3:c.882C>G , LRG_684t1:c.882C>G	NP_000103.2:p.Phe294Leu
XM_017009191.2:c.882C>G	XP_016864680.1:p.Phe294Leu
NM_000112.4:c.882C>G MANE Select	NP_000103.2:p.Phe294Leu