Canonical Allele Identifier: CA340035519

Gene: SZT2

Linked Data

• ClinVar Variation Id: 496617
• ClinVar RCV Id: RCV000590899 ; RCV001292590
• dbSNP Id: rs1553153691
• MyVariant Identifiers: chr1:g.43907360G>A (hg19) ; chr1:g.43441689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43441689G>A , CM000663.2:g.43441689G>A	GRCh38
NC_000001.10:g.43907360G>A , CM000663.1:g.43907360G>A	GRCh37
NC_000001.9:g.43679947G>A	NCBI36
NG_029091.1:g.56805G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000562955.2:c.7442G>A	ENSP00000457168.1:p.Cys2481Tyr
ENST00000634258.3:c.7613G>A MANE Select	ENSP00000489255.1:p.Cys2538Tyr
ENST00000648058.1:n.4067G>A
ENST00000649403.1:n.2363G>A
ENST00000562955.1:c.7442G>A	ENSP00000457168.1:p.Cys2481Tyr
ENST00000634258.1:c.7613G>A	ENSP00000489255.1:p.Cys2538Tyr
NM_015284.3:c.7442G>A	NP_056099.3:p.Cys2481Tyr
XM_005270686.2:c.7676G>A	XP_005270743.1:p.Cys2559Tyr
XM_006710501.2:c.7613G>A	XP_006710564.1:p.Cys2538Tyr
XM_011541103.1:c.7730G>A	XP_011539405.1:p.Cys2577Tyr
XM_011541104.1:c.7559G>A	XP_011539406.1:p.Cys2520Tyr
XM_011541105.1:c.7556G>A	XP_011539407.1:p.Cys2519Tyr
XM_011541106.1:c.7556G>A	XP_011539408.1:p.Cys2519Tyr
XM_011541107.1:c.7157G>A	XP_011539409.1:p.Cys2386Tyr
NM_001365999.1:c.7613G>A MANE Select	NP_001352928.1:p.Cys2538Tyr
XM_005270686.3:c.7676G>A	XP_005270743.1:p.Cys2559Tyr
XM_011541106.3:c.7556G>A	XP_011539408.1:p.Cys2519Tyr
XM_011541107.2:c.7157G>A	XP_011539409.1:p.Cys2386Tyr
XM_017000819.1:c.7523G>A	XP_016856308.1:p.Cys2508Tyr
XM_017000820.1:c.7505G>A	XP_016856309.1:p.Cys2502Tyr
XM_017000821.1:c.6305G>A	XP_016856310.1:p.Cys2102Tyr
XR_001737075.1:n.7759G>A
XR_002956151.1:n.7759G>A
NM_015284.4:c.7442G>A	NP_056099.3:p.Cys2481Tyr