Canonical Allele Identifier: CA1590738317

Gene: SLC26A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149980337C= , CM000667.2:g.149980337C=	GRCh38
NC_000005.9:g.149359900C= , CM000667.1:g.149359900C=	GRCh37
NC_000005.8:g.149340093C=	NCBI36
NG_007147.2:g.21455C= , LRG_684:g.21455C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000286298.5:c.744C= MANE Select	ENSP00000286298.4:p.Leu248=
ENST00000286298.4:c.744C=	ENSP00000286298.4:p.Leu248=
ENST00000503336.1:c.372+1986C=	ENSP00000426053.1:n.372+1986C=
NM_000112.3:c.744C= , LRG_684t1:c.744C=	NP_000103.2:p.Leu248=
XM_017009191.2:c.744C=	XP_016864680.1:p.Leu248=
NM_000112.4:c.744C= MANE Select	NP_000103.2:p.Leu248=