Canonical Allele Identifier: CA385289070

Gene: GLS2 SPRYD4

Linked Data

• dbSNP Id: rs2657879
• gnomAD v4: 12-56471554-A-T
• MyVariant Identifiers: chr12:g.56865338A>T (hg19) ; chr12:g.56471554A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56471554A>T , CM000674.2:g.56471554A>T	GRCh38
NC_000012.11:g.56865338A>T , CM000674.1:g.56865338A>T	GRCh37
NC_000012.10:g.55151605A>T	NCBI36
NG_021397.2:g.2613T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311966.9:c.1742T>A (GLS2) MANE Select	ENSP00000310447.4:p.Leu581His
ENST00000338146.7:c.*1977A>T (SPRYD4) MANE Select	ENSP00000338034.5:n.*1977A>T
ENST00000648304.1:c.182+16383T>A	ENSP00000497190.1:n.182+16383T>A
ENST00000311966.8:c.1742T>A (GLS2)	ENSP00000310447.4:p.Leu581His
ENST00000338146.6:c.*1977A>T (SPRYD4)	ENSP00000338034.5:n.*1977A>T
ENST00000390288.6:n.790T>A (GLS2)
ENST00000424141.6:c.*1078T>A (GLS2)	ENSP00000416282.2:n.*1078T>A
ENST00000479952.5:c.*735T>A (GLS2)	ENSP00000417796.1:n.*735T>A
ENST00000486433.5:c.*831T>A (GLS2)	ENSP00000420328.1:n.*831T>A
ENST00000539272.5:c.1564T>A (GLS2)	ENSP00000441739.2:n.1564T>A
ENST00000610413.4:c.947T>A (GLS2)	ENSP00000483010.1:p.Leu316His
ENST00000623608.3:c.947T>A (GLS2)	ENSP00000485315.1:p.Leu316His
NM_001280796.1:c.914T>A (GLS2)	NP_001267725.1:p.Leu305His
NM_001280797.1:c.947T>A (GLS2)	NP_001267726.1:p.Leu316His
NM_001280798.1:c.947T>A (GLS2)	NP_001267727.1:p.Leu316His
NM_013267.3:c.1742T>A (GLS2)	NP_037399.2:p.Leu581His
XM_005268797.1:c.1634T>A (GLS2)	XP_005268854.1:p.Leu545His
XM_017019180.1:c.947T>A (GLS2)	XP_016874669.1:p.Leu316His
NM_013267.4:c.1742T>A (GLS2) MANE Select	NP_037399.2:p.Leu581His
NM_207344.4:c.*1977A>T (SPRYD4) MANE Select	NP_997227.1:n.*1977A>T
NM_001280796.2:c.914T>A (GLS2)	NP_001267725.1:p.Leu305His
NM_001280797.2:c.947T>A (GLS2)	NP_001267726.1:p.Leu316His
NM_001280798.2:c.947T>A (GLS2)	NP_001267727.1:p.Leu316His