Canonical Allele Identifier: CA2216332083
Community Standard Title: NM_001243332.2(SEZ6L2):c.*530G=
Gene: SEZ6L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29871169C= , CM000678.2:g.29871169C= GRCh38
NC_000016.9:g.29882490C= , CM000678.1:g.29882490C= GRCh37
NC_000016.8:g.29789991C= NCBI36
NG_029737.1:g.33096G=
NG_029737.2:g.33096G=

Transcript Alleles

HGVS Amino-acid Change
NM_001243332.2:c.*530G= MANE Select NP_001230261.1:n.*530G=
ENST00000617533.5:c.*530G= MANE Select ENSP00000481917.1:n.*530G=
NM_001114099.2:c.*530G= NP_001107571.1:n.*530G=
NM_001114099.3:c.*530G= NP_001107571.1:n.*530G=
NM_001114100.2:c.*530G= NP_001107572.1:n.*530G=
NM_001114100.3:c.*530G= NP_001107572.1:n.*530G=
NM_001243332.1:c.*530G= NP_001230261.1:n.*530G=
NM_001243333.1:c.*530G= NP_001230262.1:n.*530G=
NM_001243333.2:c.*530G= NP_001230262.1:n.*530G=
NM_001388363.1:c.*530G= NP_001375292.1:n.*530G=
NM_001388364.1:c.*530G= NP_001375293.1:n.*530G=
NM_001388365.1:c.*530G= NP_001375294.1:n.*530G=
NM_012410.3:c.*530G= NP_036542.1:n.*530G=
NM_012410.4:c.*530G= NP_036542.1:n.*530G=
NM_201575.3:c.*530G= NP_963869.2:n.*530G=
NM_201575.4:c.*530G= NP_963869.2:n.*530G=
ENST00000308713.9:c.*530G= ENSP00000312550.5:n.*530G=
ENST00000346932.9:c.*530G= ENSP00000319215.6:n.*530G=
ENST00000350527.7:c.*530G= ENSP00000310206.3:n.*530G=
ENST00000537485.5:c.*530G= ENSP00000439412.1:n.*530G=
ENST00000617533.4:c.*530G= ENSP00000481917.1:n.*530G=
XM_005255252.1:c.*530G= XP_005255309.1:n.*530G=
XM_005255252.3:c.*530G= XP_005255309.1:n.*530G=
XM_017023135.2:c.*530G= XP_016878624.1:n.*530G=
XM_024450229.1:c.*530G= XP_024305997.1:n.*530G=