Canonical Allele Identifier: CA563955677

Gene: SLC26A2

Linked Data

• ClinVar Variation Id: 1043792
• ClinVar RCV Id: RCV001347952 ; RCV001825944
• dbSNP Id: rs1204857377
• gnomAD v2: 5-149357438-CAGA-C
• gnomAD v3: 5-149977875-CAGA-C
• gnomAD v4: 5-149977875-CAGA-C
• MyVariant Identifiers: chr5:g.149357439_149357441del (hg19) ; chr5:g.149977876_149977878del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149977880_149977882del , CM000667.2:g.149977880_149977882del	GRCh38
NC_000005.9:g.149357443_149357445del , CM000667.1:g.149357443_149357445del	GRCh37
NC_000005.8:g.149337636_149337638del	NCBI36
NG_007147.2:g.18998_19000del , LRG_684:g.18998_19000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690410.1:n.460_462del
ENST00000286298.5:c.228_230del MANE Select	ENSP00000286298.4:p.Lys76del
ENST00000286298.4:c.228_230del	ENSP00000286298.4:p.Lys76del
NM_000112.3:c.228_230del , LRG_684t1:c.228_230del	NP_000103.2:p.Lys76del
XM_017009191.2:c.228_230del	XP_016864680.1:p.Lys76del
NM_000112.4:c.228_230del MANE Select	NP_000103.2:p.Lys76del