Canonical Allele Identifier: CA685630819

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1251928114
• gnomAD v3: 12-13615015-CCTT-C
• gnomAD v4: 12-13615015-CCTT-C
• MyVariant Identifiers: chr12:g.13767950_13767952del (hg19) ; chr12:g.13615016_13615018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615018_13615020del , CM000674.2:g.13615018_13615020del	GRCh38
NC_000012.11:g.13767952_13767954del , CM000674.1:g.13767952_13767954del	GRCh37
NC_000012.10:g.13659219_13659221del	NCBI36
NG_031854.1:g.370071_370073del
NG_031854.2:g.371995_371997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1654+96_1654+98del MANE Select	ENSP00000477455.1:n.1654+96_1654+98del
ENST00000609686.3:c.1654+96_1654+98del	ENSP00000477455.1:n.1654+96_1654+98del
NM_000834.3:c.1654+96_1654+98del	NP_000825.2:n.1654+96_1654+98del
XM_011520628.1:c.1654+96_1654+98del	XP_011518930.1:n.1654+96_1654+98del
XM_011520629.1:c.1654+96_1654+98del	XP_011518931.1:n.1654+96_1654+98del
XM_011520630.1:c.1654+96_1654+98del	XP_011518932.1:n.1654+96_1654+98del
XR_931372.1:n.179-80_179-78del
XR_931373.1:n.319-80_319-78del
XR_931374.1:n.118-80_118-78del
NM_000834.4:c.1654+96_1654+98del	NP_000825.2:n.1654+96_1654+98del
XM_011520628.2:c.1654+96_1654+98del	XP_011518930.1:n.1654+96_1654+98del
XM_011520629.2:c.1654+96_1654+98del	XP_011518931.1:n.1654+96_1654+98del
XM_017019219.2:c.1654+96_1654+98del	XP_016874708.1:n.1654+96_1654+98del
XR_001749013.1:n.600-80_600-78del
XR_931372.2:n.316-80_316-78del
XR_931373.2:n.458-80_458-78del
NM_000834.5:c.1654+96_1654+98del MANE Select	NP_000825.2:n.1654+96_1654+98del