Canonical Allele Identifier: CA2363622
Community Standard Title: NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser)
Gene: SETD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47122787G>A , CM000665.2:g.47122787G>A GRCh38
NC_000003.11:g.47164277G>A , CM000665.1:g.47164277G>A GRCh37
NC_000003.10:g.47139281G>A NCBI36
NG_032091.1:g.46191C>T , LRG_775:g.46191C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014159.7:c.1849C>T MANE Select NP_054878.5:p.Pro617Ser
ENST00000409792.4:c.1849C>T MANE Select ENSP00000386759.3:p.Pro617Ser
NM_001349370.1:c.1717C>T NP_001336299.1:p.Pro573Ser
NM_001349370.2:c.1717C>T NP_001336299.1:p.Pro573Ser
NM_001349370.3:c.1717C>T NP_001336299.1:p.Pro573Ser
NM_014159.6:c.1849C>T , LRG_775t1:c.1849C>T NP_054878.5:p.Pro617Ser
NR_146158.1:n.1902C>T
NR_146158.2:n.2038C>T
NR_146158.3:n.2038C>T
ENST00000330022.11:c.1464C>T
ENST00000409792.3:c.1849C>T ENSP00000386759.3:p.Pro617Ser
ENST00000412450.1:c.1717C>T ENSP00000416401.1:p.Pro573Ser
ENST00000431180.5:c.1001C>T
ENST00000445387.5:c.749C>T
ENST00000638947.2:c.1717C>T ENSP00000491413.2:p.Pro573Ser
ENST00000685005.1:c.1750C>T ENSP00000509568.1:p.Pro584Ser
ENST00000690461.1:c.13C>T ENSP00000509352.1:p.Pro5Ser
ENST00000691544.1:c.72-24706C>T ENSP00000510710.1:n.72-24706C>T
XM_011533631.1:c.1927C>T XP_011531933.1:p.Pro643Ser
XM_011533632.1:c.1873C>T XP_011531934.1:p.Pro625Ser
XM_011533632.3:c.1873C>T XP_011531934.1:p.Pro625Ser
XM_011533633.1:c.1927C>T XP_011531935.1:p.Pro643Ser
XM_011533634.1:c.1717C>T XP_011531936.1:p.Pro573Ser
XM_024453487.1:c.1717C>T XP_024309255.1:p.Pro573Ser
XM_024453488.1:c.1717C>T XP_024309256.1:p.Pro573Ser
XM_024453489.1:c.1717C>T XP_024309257.1:p.Pro573Ser
XR_001740131.2:n.1902C>T
XR_002959510.1:n.1778C>T
XR_002959511.1:n.1778C>T
XR_002959512.1:n.1778C>T
XR_002959513.1:n.1778C>T
XR_002959514.1:n.1778C>T
XR_002959515.1:n.1778C>T
XR_002959516.1:n.1778C>T
XR_002959517.1:n.1778C>T
XR_940418.1:n.1942C>T
XR_940419.1:n.2030C>T
XR_940420.1:n.2030C>T