Canonical Allele Identifier: CA516673705

Gene: IQSEC2

Linked Data

• ClinVar Variation Id: 2660598
• ClinVar RCV Id: RCV003438372
• dbSNP Id: rs1332029486
• gnomAD v3: X-53234834-T-G
• gnomAD v4: X-53234834-T-G
• MyVariant Identifiers: chrX:g.53264016T>G (hg19) ; chrX:g.53234834T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53234834T>G , CM000685.2:g.53234834T>G	GRCh38
NC_000023.10:g.53264016T>G , CM000685.1:g.53264016T>G	GRCh37
NC_000023.9:g.53280741T>G	NCBI36
NG_021296.1:g.91507A>C
NG_021296.2:g.91517A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706952.1:c.4011A>C	ENSP00000516672.1:p.Pro1337=
ENST00000638521.1:c.1453+949A>C
ENST00000638869.1:c.962+949A>C
ENST00000639796.1:c.316+1488A>C	ENSP00000492252.1:n.316+1488A>C
ENST00000640005.1:c.514+1488A>C	ENSP00000491293.1:n.514+1488A>C
ENST00000640694.1:c.*337A>C	ENSP00000492403.1:n.*337A>C
ENST00000642864.1:c.3852A>C MANE Select	ENSP00000495726.1:p.Pro1284=
ENST00000674510.1:c.3852A>C	ENSP00000502054.1:p.Pro1284=
ENST00000675719.1:c.3822A>C	ENSP00000501927.1:p.Pro1274=
ENST00000375365.2:c.*337A>C	ENSP00000364514.2:n.*337A>C
ENST00000396435.7:c.3852A>C	ENSP00000379712.3:p.Pro1284=
NM_001111125.2:c.3852A>C	NP_001104595.1:p.Pro1284=
NM_015075.1:c.*337A>C	NP_055890.1:n.*337A>C
XM_006724579.2:c.3948A>C	XP_006724642.1:p.Pro1316=
XM_006724580.2:c.3237A>C	XP_006724643.1:p.Pro1079=
XM_006724581.2:c.3597+949A>C	XP_006724644.1:n.3597+949A>C
XM_006724582.2:c.3597+949A>C	XP_006724645.1:n.3597+949A>C
XM_006724583.2:c.3547+1488A>C	XP_006724646.1:n.3547+1488A>C
XM_006724584.2:c.*337A>C	XP_006724647.1:n.*337A>C
XM_011530772.1:c.3174A>C	XP_011529074.1:p.Pro1058=
XM_011530773.1:c.3141A>C	XP_011529075.1:p.Pro1047=
XM_011530775.1:c.3547+1488A>C	XP_011529077.1:n.3547+1488A>C
XM_006724579.3:c.3948A>C	XP_006724642.1:p.Pro1316=
XM_006724580.3:c.3237A>C	XP_006724643.1:p.Pro1079=
XM_006724581.4:c.3597+949A>C	XP_006724644.1:n.3597+949A>C
XM_006724582.4:c.3597+949A>C	XP_006724645.1:n.3597+949A>C
XM_006724583.4:c.3547+1488A>C	XP_006724646.1:n.3547+1488A>C
XM_006724584.3:c.*337A>C	XP_006724647.1:n.*337A>C
XM_011530773.2:c.3141A>C	XP_011529075.1:p.Pro1047=
XM_017029359.2:c.3822A>C	XP_016884848.1:p.Pro1274=
XM_017029360.1:c.3354A>C	XP_016884849.1:p.Pro1118=
NM_001111125.3:c.3852A>C MANE Select	NP_001104595.1:p.Pro1284=
NM_015075.2:c.*337A>C	NP_055890.1:n.*337A>C