Canonical Allele Identifier: CA361704781

Gene: SLC26A2

Linked Data

• dbSNP Id: rs1755022982
• gnomAD v4: 5-149977989-A-G
• MyVariant Identifiers: chr5:g.149357552A>G (hg19) ; chr5:g.149977989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149977989A>G , CM000667.2:g.149977989A>G	GRCh38
NC_000005.9:g.149357552A>G , CM000667.1:g.149357552A>G	GRCh37
NC_000005.8:g.149337745A>G	NCBI36
NG_007147.2:g.19107A>G , LRG_684:g.19107A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.569A>G
ENST00000286298.5:c.337A>G MANE Select	ENSP00000286298.4:p.Met113Val
ENST00000286298.4:c.337A>G	ENSP00000286298.4:p.Met113Val
ENST00000503336.1:c.10A>G	ENSP00000426053.1:p.Met4Val
NM_000112.3:c.337A>G , LRG_684t1:c.337A>G	NP_000103.2:p.Met113Val
XM_017009191.2:c.337A>G	XP_016864680.1:p.Met113Val
NM_000112.4:c.337A>G MANE Select	NP_000103.2:p.Met113Val