Canonical Allele Identifier: CA361709933

Gene: SLC26A2

Linked Data

• MyVariant Identifiers: chr5:g.149361310T>G (hg19) ; chr5:g.149981747T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981747T>G , CM000667.2:g.149981747T>G	GRCh38
NC_000005.9:g.149361310T>G , CM000667.1:g.149361310T>G	GRCh37
NC_000005.8:g.149341503T>G	NCBI36
NG_007147.2:g.22865T>G , LRG_684:g.22865T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.2154T>G MANE Select	ENSP00000286298.4:p.Phe718Leu
ENST00000286298.4:c.2154T>G	ENSP00000286298.4:p.Phe718Leu
ENST00000503336.1:c.372+3396T>G	ENSP00000426053.1:n.372+3396T>G
NM_000112.3:c.2154T>G , LRG_684t1:c.2154T>G	NP_000103.2:p.Phe718Leu
XM_017009191.2:c.2154T>G	XP_016864680.1:p.Phe718Leu
NM_000112.4:c.2154T>G MANE Select	NP_000103.2:p.Phe718Leu