Canonical Allele Identifier: CA340007904

Gene: SZT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43420983G>C , CM000663.2:g.43420983G>C	GRCh38
NC_000001.10:g.43886654G>C , CM000663.1:g.43886654G>C	GRCh37
NC_000001.9:g.43659241G>C	NCBI36
NG_029091.1:g.36099G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562955.2:c.1496G>C	ENSP00000457168.1:p.Ser499Thr
ENST00000634258.3:c.1496G>C MANE Select	ENSP00000489255.1:p.Ser499Thr
ENST00000639852.1:c.1162G>C	ENSP00000492385.1:n.1162G>C
ENST00000470139.1:n.227G>C
ENST00000562955.1:c.1496G>C	ENSP00000457168.1:p.Ser499Thr
ENST00000634258.1:c.1496G>C	ENSP00000489255.1:p.Ser499Thr
NM_015284.3:c.1496G>C	NP_056099.3:p.Ser499Thr
XM_005270686.2:c.1559G>C	XP_005270743.1:p.Ser520Thr
XM_006710501.2:c.1496G>C	XP_006710564.1:p.Ser499Thr
XM_011541103.1:c.1613G>C	XP_011539405.1:p.Ser538Thr
XM_011541104.1:c.1442G>C	XP_011539406.1:p.Ser481Thr
XM_011541105.1:c.1439G>C	XP_011539407.1:p.Ser480Thr
XM_011541106.1:c.1439G>C	XP_011539408.1:p.Ser480Thr
XM_011541107.1:c.1040G>C	XP_011539409.1:p.Ser347Thr
NM_001365999.1:c.1496G>C MANE Select	NP_001352928.1:p.Ser499Thr
XM_005270686.3:c.1559G>C	XP_005270743.1:p.Ser520Thr
XM_011541106.3:c.1439G>C	XP_011539408.1:p.Ser480Thr
XM_011541107.2:c.1040G>C	XP_011539409.1:p.Ser347Thr
XM_017000819.1:c.1559G>C	XP_016856308.1:p.Ser520Thr
XM_017000820.1:c.1388G>C	XP_016856309.1:p.Ser463Thr
XM_017000821.1:c.188G>C	XP_016856310.1:p.Ser63Thr
XR_001737075.1:n.1642G>C
XR_001737076.1:n.1644G>C
XR_001737077.1:n.1644G>C
XR_002956151.1:n.1642G>C
NM_015284.4:c.1496G>C	NP_056099.3:p.Ser499Thr