Canonical Allele Identifier: CA14218038
Gene: SEZ6L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29874126A>G , CM000678.2:g.29874126A>G GRCh38
NC_000016.9:g.29885447A>G , CM000678.1:g.29885447A>G GRCh37
NC_000016.8:g.29792948A>G NCBI36
NG_029737.1:g.30139T>C
NG_029737.2:g.30139T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617533.5:c.2105-397T>C MANE Select ENSP00000481917.1:n.2105-397T>C
ENST00000308713.9:c.2105-397T>C ENSP00000312550.5:n.2105-397T>C
ENST00000346932.9:c.1763-397T>C ENSP00000319215.6:n.1763-397T>C
ENST00000350527.7:c.1895-397T>C ENSP00000310206.3:n.1895-397T>C
ENST00000537485.5:c.1973-397T>C ENSP00000439412.1:n.1973-397T>C
ENST00000617533.4:c.2105-397T>C ENSP00000481917.1:n.2105-397T>C
NM_001114099.2:c.1895-397T>C NP_001107571.1:n.1895-397T>C
NM_001114100.2:c.1763-397T>C NP_001107572.1:n.1763-397T>C
NM_001243332.1:c.2105-397T>C NP_001230261.1:n.2105-397T>C
NM_001243333.1:c.1973-397T>C NP_001230262.1:n.1973-397T>C
NM_012410.3:c.1895-397T>C NP_036542.1:n.1895-397T>C
NM_201575.3:c.2105-397T>C NP_963869.2:n.2105-397T>C
XM_005255252.1:c.2105-397T>C XP_005255309.1:n.2105-397T>C
XM_005255252.3:c.2105-397T>C XP_005255309.1:n.2105-397T>C
XM_017023135.2:c.1553-397T>C XP_016878624.1:n.1553-397T>C
XM_024450229.1:c.1763-397T>C XP_024305997.1:n.1763-397T>C
NM_001114099.3:c.1895-397T>C NP_001107571.1:n.1895-397T>C
NM_001114100.3:c.1763-397T>C NP_001107572.1:n.1763-397T>C
NM_012410.4:c.1895-397T>C NP_036542.1:n.1895-397T>C
NM_201575.4:c.2105-397T>C NP_963869.2:n.2105-397T>C
NM_001243332.2:c.2105-397T>C MANE Select NP_001230261.1:n.2105-397T>C
NM_001243333.2:c.1973-397T>C NP_001230262.1:n.1973-397T>C
NM_001388363.1:c.1763-397T>C NP_001375292.1:n.1763-397T>C
NM_001388364.1:c.2105-397T>C NP_001375293.1:n.2105-397T>C
NM_001388365.1:c.1904-397T>C NP_001375294.1:n.1904-397T>C