Allele Registry

Canonical Allele Identifier: CA15737218

Gene: GLS2 HGNC NCBI
SPRYD4 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr12:g.56471272G>C

GRCh37 chr12:g.56865056G>C

Linked Data - Sequence & Population

gnomAD v2:

12:56865056 G / C

gnomAD v3:

12:56471272 G / C

gnomAD v4:

chr12-56471272-G-C

Joint Max Group AF 0.2049248 (MID)

Genomes Max Group AF 0.20050821 (AMR)

Exomes Max Group AF 0.20417123 (AMR)

Linked Data - NCBI & NCI

dbSNP:

2638315

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56471272G>C , CM000674.2:g.56471272G>C	GRCh38
NC_000012.11:g.56865056G>C , CM000674.1:g.56865056G>C	GRCh37
NC_000012.10:g.55151323G>C	NCBI36
NG_021397.2:g.2895C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311966.9:c.*215C>G (GLS2) MANE Select	ENSP00000310447.4:n.*215C>G
ENST00000338146.7:c.*1695G>C (SPRYD4) MANE Select	ENSP00000338034.5:n.*1695G>C
ENST00000648304.1:c.182+16665C>G	ENSP00000497190.1:n.182+16665C>G
ENST00000311966.8:c.*215C>G (GLS2)	ENSP00000310447.4:n.*215C>G
ENST00000338146.6:c.*1695G>C (SPRYD4)	ENSP00000338034.5:n.*1695G>C
ENST00000390288.6:n.1072C>G (GLS2)
ENST00000424141.6:c.*1360C>G (GLS2)	ENSP00000416282.2:n.*1360C>G
ENST00000479952.5:c.*1017C>G (GLS2)	ENSP00000417796.1:n.*1017C>G
ENST00000486433.5:c.*1113C>G (GLS2)	ENSP00000420328.1:n.*1113C>G
ENST00000539272.5:c.1846C>G (GLS2)	ENSP00000441739.2:n.1846C>G
ENST00000610413.4:c.*215C>G (GLS2)	ENSP00000483010.1:n.*215C>G
ENST00000623608.3:c.*215C>G (GLS2)	ENSP00000485315.1:n.*215C>G
NM_001280796.1:c.*215C>G (GLS2)	NP_001267725.1:n.*215C>G
NM_001280797.1:c.*215C>G (GLS2)	NP_001267726.1:n.*215C>G
NM_001280798.1:c.*215C>G (GLS2)	NP_001267727.1:n.*215C>G
NM_013267.3:c.*215C>G (GLS2)	NP_037399.2:n.*215C>G
XM_005268797.1:c.*215C>G (GLS2)	XP_005268854.1:n.*215C>G
XM_017019180.1:c.*215C>G (GLS2)	XP_016874669.1:n.*215C>G
NM_013267.4:c.*215C>G (GLS2) MANE Select	NP_037399.2:n.*215C>G
NM_207344.4:c.*1695G>C (SPRYD4) MANE Select	NP_997227.1:n.*1695G>C
NM_001280796.2:c.*215C>G (GLS2)	NP_001267725.1:n.*215C>G
NM_001280797.2:c.*215C>G (GLS2)	NP_001267726.1:n.*215C>G
NM_001280798.2:c.*215C>G (GLS2)	NP_001267727.1:n.*215C>G

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