Canonical Allele Identifier: CA2617718748

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13563030-G-GGAAAAGCTACCTTTGTGCTCACATAGCCTCTTTTTGGTTCTCCCAGCTTCACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13563030_13563031insGAAAAGCTACCTTTGTGCTCACATAGCCTCTTTTTGGTTCTCCCAGCTTCACTC , CM000674.2:g.13563030_13563031insGAAAAGCTACCTTTGTGCTCACATAGCCTCTTTTTGGTTCTCCCAGCTTCACTC	GRCh38
NC_000012.11:g.13715964_13715965insGAAAAGCTACCTTTGTGCTCACATAGCCTCTTTTTGGTTCTCCCAGCTTCACTC , CM000674.1:g.13715964_13715965insGAAAAGCTACCTTTGTGCTCACATAGCCTCTTTTTGGTTCTCCCAGCTTCACTC	GRCh37
NC_000012.10:g.13607231_13607232insGAAAAGCTACCTTTGTGCTCACATAGCCTCTTTTTGGTTCTCCCAGCTTCACTC	NCBI36
NG_031854.1:g.422058_422059insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC
NG_031854.2:g.423982_423983insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC MANE Select	ENSP00000477455.1:p.Ser1403Ter
ENST00000637214.1:c.69+45572_69+45573insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	ENSP00000489997.1:n.69+45572_69+45573insGAGTGAAGCTGGGAGAACCAA...
ENST00000609686.3:c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	ENSP00000477455.1:p.Ser1403Ter
ENST00000628166.1:n.2467_2468insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC
NM_000834.3:c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	NP_000825.2:p.Ser1403Ter
XM_005253351.2:c.1993_1994insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	XP_005253408.1:p.Ser665Ter
XM_011520628.1:c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	XP_011518930.1:p.Ser1403Ter
XM_011520629.1:c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	XP_011518931.1:p.Ser1403Ter
XM_011520630.1:c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	XP_011518932.1:p.Ser1403Ter
NM_000834.4:c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	NP_000825.2:p.Ser1403Ter
XM_005253351.3:c.1993_1994insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	XP_005253408.1:p.Ser665Ter
XM_011520628.2:c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	XP_011518930.1:p.Ser1403Ter
XM_011520629.2:c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	XP_011518931.1:p.Ser1403Ter
XM_017019219.2:c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC	XP_016874708.1:p.Ser1403Ter
NM_000834.5:c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC MANE Select	NP_000825.2:p.Ser1403Ter