Canonical Allele Identifier: CA373987823
Gene: SECISBP2 HGNC NCBI

Linked Data

dbSNP Id: rs119461977
gnomAD v2: 9-91956271-A-G
gnomAD v3: 9-89341356-A-G
gnomAD v4: 9-89341356-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.89341356A>G , CM000671.2:g.89341356A>G GRCh38
NC_000009.11:g.91956271A>G , CM000671.1:g.91956271A>G GRCh37
NC_000009.10:g.91146091A>G NCBI36
NG_012177.1:g.27860A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375807.8:c.1312A>G MANE Select ENSP00000364965.3:p.Lys438Glu
ENST00000339901.8:c.1093A>G ENSP00000364959.3:p.Lys365Glu
ENST00000375807.7:c.1312A>G ENSP00000364965.3:p.Lys438Glu
ENST00000425851.1:c.703A>G ENSP00000414288.1:p.Lys235Glu
ENST00000534113.6:c.1108A>G ENSP00000436650.2:p.Lys370Glu
NM_001282688.1:c.1309A>G NP_001269617.1:p.Lys437Glu
NM_001282689.1:c.1093A>G NP_001269618.1:p.Lys365Glu
NM_001282690.1:c.1108A>G NP_001269619.1:p.Lys370Glu
NM_024077.4:c.1312A>G NP_076982.3:p.Lys438Glu
XM_005252196.2:c.1195A>G XP_005252253.1:p.Lys399Glu
XM_005252202.2:c.415A>G XP_005252259.1:p.Lys139Glu
XM_006717282.2:c.1093A>G XP_006717345.1:p.Lys365Glu
XM_011519000.1:c.1108A>G XP_011517302.1:p.Lys370Glu
XM_011519001.1:c.1018A>G XP_011517303.1:p.Lys340Glu
XM_011519002.1:c.994A>G XP_011517304.1:p.Lys332Glu
XM_011519003.1:c.991A>G XP_011517305.1:p.Lys331Glu
XR_929840.1:n.1470A>G
XR_929841.1:n.1470A>G
XR_929842.1:n.1470A>G
XR_929843.1:n.1470A>G
NM_001354696.1:c.1195A>G NP_001341625.1:p.Lys399Glu
NM_001354697.1:c.1198A>G NP_001341626.1:p.Lys400Glu
NM_001354698.1:c.1105A>G NP_001341627.1:p.Lys369Glu
NM_001354702.1:c.427A>G NP_001341631.1:p.Lys143Glu
XM_011519000.2:c.1108A>G XP_011517302.1:p.Lys370Glu
XM_017015122.2:c.1222A>G XP_016870611.1:p.Lys408Glu
XM_024447666.1:c.1108A>G XP_024303434.1:p.Lys370Glu
XM_024447667.1:c.976A>G XP_024303435.1:p.Lys326Glu
XM_024447668.1:c.415A>G XP_024303436.1:p.Lys139Glu
XM_024447669.1:c.415A>G XP_024303437.1:p.Lys139Glu
XR_001746376.1:n.1470A>G
XR_001746377.1:n.1470A>G
XR_001746378.1:n.1470A>G
XR_002956807.1:n.1470A>G
NM_001282688.2:c.1309A>G NP_001269617.1:p.Lys437Glu
NM_001282689.2:c.1093A>G NP_001269618.1:p.Lys365Glu
NM_001354696.2:c.1195A>G NP_001341625.1:p.Lys399Glu
NM_001354697.2:c.1198A>G NP_001341626.1:p.Lys400Glu
NM_001354698.2:c.1105A>G NP_001341627.1:p.Lys369Glu
NM_001354702.2:c.427A>G NP_001341631.1:p.Lys143Glu
NM_024077.5:c.1312A>G MANE Select NP_076982.3:p.Lys438Glu