Canonical Allele Identifier: CA2573151546

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1493093
• ClinVar RCV Id: RCV001984109
• dbSNP Id: rs2142389389

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180156_10180157insCCCGGACATGAG , CM000678.2:g.10180156_10180157insCCCGGACATGAG	GRCh38
NC_000016.9:g.10274013_10274014insCCCGGACATGAG , CM000678.1:g.10274013_10274014insCCCGGACATGAG	GRCh37
NC_000016.8:g.10181514_10181515insCCCGGACATGAG	NCBI36
NG_011812.1:g.7598_7599insCTCATGTCCGGG
NG_011812.2:g.7598_7599insCTCATGTCCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.255_256insCTCATGTCCGGG MANE Select	ENSP00000332549.3:p.His85_Val86insLeuMetSerGly
ENST00000675189.1:n.739_740insCTCATGTCCGGG
ENST00000675398.1:c.255_256insCTCATGTCCGGG	ENSP00000502752.1:p.His85_Val86insLeuMetSerGly
ENST00000676032.1:n.688_689insCTCATGTCCGGG
ENST00000330684.3:c.255_256insCTCATGTCCGGG	ENSP00000332549.3:p.His85_Val86insLeuMetSerGly
ENST00000396573.6:c.255_256insCTCATGTCCGGG	ENSP00000379818.2:p.His85_Val86insLeuMetSerGly
ENST00000562109.5:c.255_256insCTCATGTCCGGG	ENSP00000454998.1:p.His85_Val86insLeuMetSerGly
ENST00000566665.1:n.656_657insCTCATGTCCGGG
NM_000833.4:c.255_256insCTCATGTCCGGG	NP_000824.1:p.His85_Val86insLeuMetSerGly
NM_001134407.2:c.255_256insCTCATGTCCGGG	NP_001127879.1:p.His85_Val86insLeuMetSerGly
NM_001134408.2:c.255_256insCTCATGTCCGGG	NP_001127880.1:p.His85_Val86insLeuMetSerGly
XM_011522461.1:c.255_256insCTCATGTCCGGG	XP_011520763.1:p.His85_Val86insLeuMetSerGly
XM_011522461.3:c.255_256insCTCATGTCCGGG	XP_011520763.1:p.His85_Val86insLeuMetSerGly
XM_017023172.1:c.411_412insCTCATGTCCGGG	XP_016878661.1:p.His137_Val138insLeuMetSerGly
XM_017023173.1:c.411_412insCTCATGTCCGGG	XP_016878662.1:p.His137_Val138insLeuMetSerGly
NM_001134407.3:c.255_256insCTCATGTCCGGG MANE Select	NP_001127879.1:p.His85_Val86insLeuMetSerGly
NM_000833.5:c.255_256insCTCATGTCCGGG	NP_000824.1:p.His85_Val86insLeuMetSerGly