Canonical Allele Identifier: CA809797

Gene: SZT2

Linked Data

• ClinVar Variation Id: 372895
• ClinVar RCV Id: RCV000412881 ; RCV000735287 ; RCV001004920 ; RCV003156093
• dbSNP Id: rs746200792
• ExAC: 1:43902924 CGTT / C
• gnomAD v2: 1-43902924-CGTT-C
• gnomAD v3: 1-43437253-CGTT-C
• gnomAD v4: 1-43437253-CGTT-C
• MyVariant Identifiers: chr1:g.43902927_43902929del (hg19) ; chr1:g.43902925_43902927del (hg19) ; chr1:g.43437256_43437258del (hg38) ; chr1:g.43437255_43437257del (hg38) ; chr1:g.43437254_43437256del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43437256_43437258del , CM000663.2:g.43437256_43437258del	GRCh38
NC_000001.10:g.43902927_43902929del , CM000663.1:g.43902927_43902929del	GRCh37
NC_000001.9:g.43675514_43675516del	NCBI36
NG_029091.1:g.52372_52374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562955.2:c.5949_5951del	ENSP00000457168.1:p.Val1984del
ENST00000634258.3:c.6120_6122del MANE Select	ENSP00000489255.1:p.Val2041del
ENST00000639197.1:n.1549_1551del
ENST00000648058.1:n.2574_2576del
ENST00000649403.1:n.870_872del
ENST00000562955.1:c.5949_5951del	ENSP00000457168.1:p.Val1984del
ENST00000634258.1:c.6120_6122del	ENSP00000489255.1:p.Val2041del
NM_015284.3:c.5949_5951del	NP_056099.3:p.Val1984del
XM_005270686.2:c.6183_6185del	XP_005270743.1:p.Val2062del
XM_006710501.2:c.6120_6122del	XP_006710564.1:p.Val2041del
XM_011541103.1:c.6237_6239del	XP_011539405.1:p.Val2080del
XM_011541104.1:c.6066_6068del	XP_011539406.1:p.Val2023del
XM_011541105.1:c.6063_6065del	XP_011539407.1:p.Val2022del
XM_011541106.1:c.6063_6065del	XP_011539408.1:p.Val2022del
XM_011541107.1:c.5664_5666del	XP_011539409.1:p.Val1889del
NM_001365999.1:c.6120_6122del MANE Select	NP_001352928.1:p.Val2041del
XM_005270686.3:c.6183_6185del	XP_005270743.1:p.Val2062del
XM_011541106.3:c.6063_6065del	XP_011539408.1:p.Val2022del
XM_011541107.2:c.5664_5666del	XP_011539409.1:p.Val1889del
XM_017000819.1:c.6030_6032del	XP_016856308.1:p.Val2011del
XM_017000820.1:c.6012_6014del	XP_016856309.1:p.Val2005del
XM_017000821.1:c.4812_4814del	XP_016856310.1:p.Val1605del
XR_001737075.1:n.6266_6268del
XR_002956151.1:n.6266_6268del
NM_015284.4:c.5949_5951del	NP_056099.3:p.Val1984del