Canonical Allele Identifier: CA7896990

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1592434
• ClinVar RCV Id: RCV002111702
• dbSNP Id: rs773960093
• ExAC: 16:10273838 TCA / T
• gnomAD v2: 16-10273838-TCA-T
• gnomAD v4: 16-10179981-TCA-T
• MyVariant Identifiers: chr16:g.10273839_10273840del (hg19) ; chr16:g.10179982_10179983del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10179982_10179983del , CM000678.2:g.10179982_10179983del	GRCh38
NC_000016.9:g.10273839_10273840del , CM000678.1:g.10273839_10273840del	GRCh37
NC_000016.8:g.10181340_10181341del	NCBI36
NG_011812.1:g.7772_7773del
NG_011812.2:g.7772_7773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.414+15_414+16del MANE Select	ENSP00000332549.3:n.414+15_414+16del
ENST00000637334.1:n.93+15_93+16del
ENST00000637393.1:c.6+15_6+16del	ENSP00000490232.1:n.6+15_6+16del
ENST00000675189.1:n.898+15_898+16del
ENST00000675398.1:c.414+15_414+16del	ENSP00000502752.1:n.414+15_414+16del
ENST00000676032.1:n.862_863del
ENST00000330684.3:c.414+15_414+16del	ENSP00000332549.3:n.414+15_414+16del
ENST00000396573.6:c.414+15_414+16del	ENSP00000379818.2:n.414+15_414+16del
ENST00000562109.5:c.414+15_414+16del	ENSP00000454998.1:n.414+15_414+16del
ENST00000566665.1:n.830_831del
NM_000833.4:c.414+15_414+16del	NP_000824.1:n.414+15_414+16del
NM_001134407.2:c.414+15_414+16del	NP_001127879.1:n.414+15_414+16del
NM_001134408.2:c.414+15_414+16del	NP_001127880.1:n.414+15_414+16del
XM_011522461.1:c.414+15_414+16del	XP_011520763.1:n.414+15_414+16del
XM_011522461.3:c.414+15_414+16del	XP_011520763.1:n.414+15_414+16del
XM_017023172.1:c.570+15_570+16del	XP_016878661.1:n.570+15_570+16del
XM_017023173.1:c.570+15_570+16del	XP_016878662.1:n.570+15_570+16del
NM_001134407.3:c.414+15_414+16del MANE Select	NP_001127879.1:n.414+15_414+16del
NM_000833.5:c.414+15_414+16del	NP_000824.1:n.414+15_414+16del