Canonical Allele Identifier: CA340034999

Gene: SZT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43441361T>C , CM000663.2:g.43441361T>C	GRCh38
NC_000001.10:g.43907032T>C , CM000663.1:g.43907032T>C	GRCh37
NC_000001.9:g.43679619T>C	NCBI36
NG_029091.1:g.56477T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562955.2:c.7321T>C	ENSP00000457168.1:p.Ser2441Pro
ENST00000634258.3:c.7492T>C MANE Select	ENSP00000489255.1:p.Ser2498Pro
ENST00000648058.1:n.3946T>C
ENST00000649403.1:n.2242T>C
ENST00000562955.1:c.7321T>C	ENSP00000457168.1:p.Ser2441Pro
ENST00000634258.1:c.7492T>C	ENSP00000489255.1:p.Ser2498Pro
NM_015284.3:c.7321T>C	NP_056099.3:p.Ser2441Pro
XM_005270686.2:c.7555T>C	XP_005270743.1:p.Ser2519Pro
XM_006710501.2:c.7492T>C	XP_006710564.1:p.Ser2498Pro
XM_011541103.1:c.7609T>C	XP_011539405.1:p.Ser2537Pro
XM_011541104.1:c.7438T>C	XP_011539406.1:p.Ser2480Pro
XM_011541105.1:c.7435T>C	XP_011539407.1:p.Ser2479Pro
XM_011541106.1:c.7435T>C	XP_011539408.1:p.Ser2479Pro
XM_011541107.1:c.7036T>C	XP_011539409.1:p.Ser2346Pro
NM_001365999.1:c.7492T>C MANE Select	NP_001352928.1:p.Ser2498Pro
XM_005270686.3:c.7555T>C	XP_005270743.1:p.Ser2519Pro
XM_011541106.3:c.7435T>C	XP_011539408.1:p.Ser2479Pro
XM_011541107.2:c.7036T>C	XP_011539409.1:p.Ser2346Pro
XM_017000819.1:c.7402T>C	XP_016856308.1:p.Ser2468Pro
XM_017000820.1:c.7384T>C	XP_016856309.1:p.Ser2462Pro
XM_017000821.1:c.6184T>C	XP_016856310.1:p.Ser2062Pro
XR_001737075.1:n.7638T>C
XR_002956151.1:n.7638T>C
NM_015284.4:c.7321T>C	NP_056099.3:p.Ser2441Pro