Canonical Allele Identifier: CA2675943661

Gene: SLC26A2

Linked Data

• gnomAD v4: 5-149981699-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149981706_149981708del , CM000667.2:g.149981706_149981708del	GRCh38
NC_000005.9:g.149361269_149361271del , CM000667.1:g.149361269_149361271del	GRCh37
NC_000005.8:g.149341462_149341464del	NCBI36
NG_007147.2:g.22824_22826del , LRG_684:g.22824_22826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.2113_2115del MANE Select	ENSP00000286298.4:p.Glu705del
ENST00000286298.4:c.2113_2115del	ENSP00000286298.4:p.Glu705del
ENST00000503336.1:c.372+3355_372+3357del	ENSP00000426053.1:n.372+3355_372+3357del
NM_000112.3:c.2113_2115del , LRG_684t1:c.2113_2115del	NP_000103.2:p.Glu705del
XM_017009191.2:c.2113_2115del	XP_016864680.1:p.Glu705del
NM_000112.4:c.2113_2115del MANE Select	NP_000103.2:p.Glu705del