Canonical Allele Identifier: CA10623616

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 352055
• ClinVar RCV Id: RCV000262117 ; RCV000279719 ; RCV000319588 ; RCV000341640 ; RCV000371915
• dbSNP Id: rs147208348
• gnomAD v2: 5-149363346-G-T
• gnomAD v3: 5-149983783-G-T
• gnomAD v4: 5-149983783-G-T
• MyVariant Identifiers: chr5:g.149363346G>T (hg19) ; chr5:g.149983783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149983783G>T , CM000667.2:g.149983783G>T	GRCh38
NC_000005.9:g.149363346G>T , CM000667.1:g.149363346G>T	GRCh37
NC_000005.8:g.149343539G>T	NCBI36
NG_007147.2:g.24901G>T , LRG_684:g.24901G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286298.5:c.*1970G>T MANE Select	ENSP00000286298.4:n.*1970G>T
ENST00000286298.4:c.*1970G>T	ENSP00000286298.4:n.*1970G>T
ENST00000503336.1:c.372+5432G>T	ENSP00000426053.1:n.372+5432G>T
NM_000112.3:c.*1970G>T , LRG_684t1:c.*1970G>T	NP_000103.2:n.*1970G>T
XM_017009191.2:c.*1867G>T	XP_016864680.1:n.*1867G>T
NM_000112.4:c.*1970G>T MANE Select	NP_000103.2:n.*1970G>T