Canonical Allele Identifier: CA2569870

Gene: CASR

Linked Data

• ClinVar Variation Id: 342801
• ClinVar RCV Id: RCV000275318 ; RCV000332693 ; RCV000616813 ; RCV000319319 ; RCV000386160 ; RCV004021879 ; RCV000463497 ; RCV002257650 ; RCV002488736
• dbSNP Id: rs76327999
• ExAC: 3:122003625 G / A
• gnomAD v2: 3-122003625-G-A
• gnomAD v3: 3-122284778-G-A
• gnomAD v4: 3-122284778-G-A
• MyVariant Identifiers: chr3:g.122003625G>A (hg19) ; chr3:g.122003625_122003628delinsAAGC (hg19) ; chr3:g.122284778G>A (hg38) ; chr3:g.122284778_122284781delinsAAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284778G>A , CM000665.2:g.122284778G>A	GRCh38
NC_000003.11:g.122003625G>A , CM000665.1:g.122003625G>A	GRCh37
NC_000003.10:g.123486315G>A	NCBI36
NG_009058.1:g.106096G>A
NG_009058.2:g.106111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2593G>A	ENSP00000418685.2:p.Glu865Lys
ENST00000498619.4:c.2854G>A	ENSP00000420194.1:p.Glu952Lys
ENST00000638421.1:c.2824G>A	ENSP00000492190.1:p.Glu942Lys
ENST00000639785.2:c.2824G>A MANE Select	ENSP00000491584.2:p.Glu942Lys
ENST00000490131.5:c.2824G>A	ENSP00000418685.1:p.Glu942Lys
ENST00000498619.2:c.2854G>A	ENSP00000420194.1:p.Glu952Lys
NM_000388.3:c.2824G>A	NP_000379.2:p.Glu942Lys
NM_001178065.1:c.2854G>A	NP_001171536.1:p.Glu952Lys
XM_005247836.2:c.2824G>A	XP_005247893.1:p.Glu942Lys
XM_005247837.2:c.2341G>A	XP_005247894.1:p.Glu781Lys
XM_006713789.2:c.2824G>A	XP_006713852.1:p.Glu942Lys
XM_011513237.1:c.2824G>A	XP_011511539.1:p.Glu942Lys
XM_011513238.1:c.2824G>A	XP_011511540.1:p.Glu942Lys
XM_011513239.1:c.2236G>A	XP_011511541.1:p.Glu746Lys
XM_006713789.3:c.2824G>A	XP_006713852.1:p.Glu942Lys
XM_017007324.1:c.2824G>A	XP_016862813.1:p.Glu942Lys
XM_017007325.1:c.2824G>A	XP_016862814.1:p.Glu942Lys
NM_000388.4:c.2824G>A MANE Select	NP_000379.3:p.Glu942Lys
NM_001178065.2:c.2854G>A	NP_001171536.2:p.Glu952Lys