Canonical Allele Identifier: CA1590738316

Gene: SLC26A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980335C= , CM000667.2:g.149980335C=	GRCh38
NC_000005.9:g.149359898C= , CM000667.1:g.149359898C=	GRCh37
NC_000005.8:g.149340091C=	NCBI36
NG_007147.2:g.21453C= , LRG_684:g.21453C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000286298.5:c.742C= MANE Select	ENSP00000286298.4:p.Leu248=
ENST00000286298.4:c.742C=	ENSP00000286298.4:p.Leu248=
ENST00000503336.1:c.372+1984C=	ENSP00000426053.1:n.372+1984C=
NM_000112.3:c.742C= , LRG_684t1:c.742C=	NP_000103.2:p.Leu248=
XM_017009191.2:c.742C=	XP_016864680.1:p.Leu248=
NM_000112.4:c.742C= MANE Select	NP_000103.2:p.Leu248=