Canonical Allele Identifier: CA10619669

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 352038
• ClinVar RCV Id: RCV000289233 ; RCV000329202 ; RCV000325584 ; RCV000383622 ; RCV000389504 ; RCV001812899
• dbSNP Id: rs191884433
• gnomAD v2: 5-149361706-G-T
• gnomAD v3: 5-149982143-G-T
• gnomAD v4: 5-149982143-G-T
• MyVariant Identifiers: chr5:g.149361706G>T (hg19) ; chr5:g.149982143G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149982143G>T , CM000667.2:g.149982143G>T	GRCh38
NC_000005.9:g.149361706G>T , CM000667.1:g.149361706G>T	GRCh37
NC_000005.8:g.149341899G>T	NCBI36
NG_007147.2:g.23261G>T , LRG_684:g.23261G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.*330G>T MANE Select	ENSP00000286298.4:n.*330G>T
ENST00000286298.4:c.*330G>T	ENSP00000286298.4:n.*330G>T
ENST00000503336.1:c.372+3792G>T	ENSP00000426053.1:n.372+3792G>T
NM_000112.3:c.*330G>T , LRG_684t1:c.*330G>T	NP_000103.2:n.*330G>T
XM_017009191.2:c.*227G>T	XP_016864680.1:n.*227G>T
NM_000112.4:c.*330G>T MANE Select	NP_000103.2:n.*330G>T