Canonical Allele Identifier: CA115872

Gene: SECISBP2

Linked Data

• ClinVar Variation Id: 2920
• ClinVar RCV Id: RCV000003054
• dbSNP Id: rs119461977
• ExAC: 9:91956271 A / T
• gnomAD v2: 9-91956271-A-T
• gnomAD v3: 9-89341356-A-T
• gnomAD v4: 9-89341356-A-T
• MyVariant Identifiers: chr9:g.91956271A>T (hg19) ; chr9:g.89341356A>T (hg38)
• PubMed: PMID:16228000

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000375807.8:c.1312A>T MANE Select	ENSP00000364965.3:p.Lys438Ter
ENST00000339901.8:c.1093A>T	ENSP00000364959.3:p.Lys365Ter
ENST00000375807.7:c.1312A>T	ENSP00000364965.3:p.Lys438Ter
ENST00000425851.1:c.703A>T	ENSP00000414288.1:p.Lys235Ter
ENST00000534113.6:c.1108A>T	ENSP00000436650.2:p.Lys370Ter
NM_001282688.1:c.1309A>T	NP_001269617.1:p.Lys437Ter
NM_001282689.1:c.1093A>T	NP_001269618.1:p.Lys365Ter
NM_001282690.1:c.1108A>T	NP_001269619.1:p.Lys370Ter
NM_024077.4:c.1312A>T	NP_076982.3:p.Lys438Ter
XM_005252196.2:c.1195A>T	XP_005252253.1:p.Lys399Ter
XM_005252202.2:c.415A>T	XP_005252259.1:p.Lys139Ter
XM_006717282.2:c.1093A>T	XP_006717345.1:p.Lys365Ter
XM_011519000.1:c.1108A>T	XP_011517302.1:p.Lys370Ter
XM_011519001.1:c.1018A>T	XP_011517303.1:p.Lys340Ter
XM_011519002.1:c.994A>T	XP_011517304.1:p.Lys332Ter
XM_011519003.1:c.991A>T	XP_011517305.1:p.Lys331Ter
XR_929840.1:n.1470A>T
XR_929841.1:n.1470A>T
XR_929842.1:n.1470A>T
XR_929843.1:n.1470A>T
NM_001354696.1:c.1195A>T	NP_001341625.1:p.Lys399Ter
NM_001354697.1:c.1198A>T	NP_001341626.1:p.Lys400Ter
NM_001354698.1:c.1105A>T	NP_001341627.1:p.Lys369Ter
NM_001354702.1:c.427A>T	NP_001341631.1:p.Lys143Ter
XM_011519000.2:c.1108A>T	XP_011517302.1:p.Lys370Ter
XM_017015122.2:c.1222A>T	XP_016870611.1:p.Lys408Ter
XM_024447666.1:c.1108A>T	XP_024303434.1:p.Lys370Ter
XM_024447667.1:c.976A>T	XP_024303435.1:p.Lys326Ter
XM_024447668.1:c.415A>T	XP_024303436.1:p.Lys139Ter
XM_024447669.1:c.415A>T	XP_024303437.1:p.Lys139Ter
XR_001746376.1:n.1470A>T
XR_001746377.1:n.1470A>T
XR_001746378.1:n.1470A>T
XR_002956807.1:n.1470A>T
NM_001282688.2:c.1309A>T	NP_001269617.1:p.Lys437Ter
NM_001282689.2:c.1093A>T	NP_001269618.1:p.Lys365Ter
NM_001354696.2:c.1195A>T	NP_001341625.1:p.Lys399Ter
NM_001354697.2:c.1198A>T	NP_001341626.1:p.Lys400Ter
NM_001354698.2:c.1105A>T	NP_001341627.1:p.Lys369Ter
NM_001354702.2:c.427A>T	NP_001341631.1:p.Lys143Ter
NM_024077.5:c.1312A>T MANE Select	NP_076982.3:p.Lys438Ter