Canonical Allele Identifier: CA352514806

Gene: SETD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47106044G>A , CM000665.2:g.47106044G>A	GRCh38
NC_000003.11:g.47147534G>A , CM000665.1:g.47147534G>A	GRCh37
NC_000003.10:g.47122538G>A	NCBI36
NG_032091.1:g.62934C>T , LRG_775:g.62934C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014159.7:c.4792C>T MANE Select	NP_054878.5:p.Arg1598Ter
ENST00000409792.4:c.4792C>T MANE Select	ENSP00000386759.3:p.Arg1598Ter
NM_001349370.1:c.4660C>T	NP_001336299.1:p.Arg1554Ter
NM_001349370.2:c.4660C>T	NP_001336299.1:p.Arg1554Ter
NM_001349370.3:c.4660C>T	NP_001336299.1:p.Arg1554Ter
NM_014159.6:c.4792C>T , LRG_775t1:c.4792C>T	NP_054878.5:p.Arg1598Ter
NR_146158.1:n.4845C>T
NR_146158.2:n.4981C>T
NR_146158.3:n.4981C>T
ENST00000330022.11:c.4660-2621C>T
ENST00000409792.3:c.4792C>T	ENSP00000386759.3:p.Arg1598Ter
ENST00000431180.5:c.3868-2621C>T
ENST00000445387.5:c.3692C>T
ENST00000638947.1:c.442C>T	ENSP00000491413.1:p.Arg148Ter
ENST00000638947.2:c.4660C>T	ENSP00000491413.2:p.Arg1554Ter
ENST00000685005.1:c.4693C>T	ENSP00000509568.1:p.Arg1565Ter
ENST00000685399.1:c.2672C>T
ENST00000685505.1:c.2733C>T
ENST00000686773.1:c.2672C>T
ENST00000686876.1:c.1731+7832C>T
ENST00000688290.1:c.2672C>T
ENST00000690157.1:c.1808C>T
ENST00000690461.1:c.2956C>T	ENSP00000509352.1:p.Arg986Ter
ENST00000691544.1:c.72-7963C>T	ENSP00000510710.1:n.72-7963C>T
ENST00000691902.1:c.1808C>T
ENST00000692362.1:n.597C>T
ENST00000692883.1:c.2733C>T
ENST00000693321.1:c.2672C>T
XM_011533631.1:c.4870C>T	XP_011531933.1:p.Arg1624Ter
XM_011533632.1:c.4816C>T	XP_011531934.1:p.Arg1606Ter
XM_011533632.3:c.4816C>T	XP_011531934.1:p.Arg1606Ter
XM_011533633.1:c.4870C>T	XP_011531935.1:p.Arg1624Ter
XM_011533634.1:c.4660C>T	XP_011531936.1:p.Arg1554Ter
XM_024453487.1:c.4660C>T	XP_024309255.1:p.Arg1554Ter
XM_024453488.1:c.4583+7832C>T	XP_024309256.1:n.4583+7832C>T
XM_024453489.1:c.4660C>T	XP_024309257.1:p.Arg1554Ter
XR_001740131.2:n.4768+7832C>T
XR_002959510.1:n.4721C>T
XR_002959511.1:n.4721C>T
XR_002959512.1:n.4721C>T
XR_002959513.1:n.4721C>T
XR_002959514.1:n.4721C>T
XR_002959515.1:n.4721C>T
XR_002959516.1:n.4721C>T
XR_002959517.1:n.4721C>T
XR_940418.1:n.4885C>T
XR_940419.1:n.4973C>T
XR_940420.1:n.4973C>T