Canonical Allele Identifier: CA685630851

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1329860483
• gnomAD v3: 12-13615044-CTCCTTTTT-C
• gnomAD v4: 12-13615044-CTCCTTTTT-C
• MyVariant Identifiers: chr12:g.13767979_13767986del (hg19) ; chr12:g.13615045_13615052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615050_13615057del , CM000674.2:g.13615050_13615057del	GRCh38
NC_000012.11:g.13767984_13767991del , CM000674.1:g.13767984_13767991del	GRCh37
NC_000012.10:g.13659251_13659258del	NCBI36
NG_031854.1:g.370037_370044del
NG_031854.2:g.371961_371968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1654+62_1654+69del MANE Select	ENSP00000477455.1:n.1654+62_1654+69del
ENST00000609686.3:c.1654+62_1654+69del	ENSP00000477455.1:n.1654+62_1654+69del
NM_000834.3:c.1654+62_1654+69del	NP_000825.2:n.1654+62_1654+69del
XM_011520628.1:c.1654+62_1654+69del	XP_011518930.1:n.1654+62_1654+69del
XM_011520629.1:c.1654+62_1654+69del	XP_011518931.1:n.1654+62_1654+69del
XM_011520630.1:c.1654+62_1654+69del	XP_011518932.1:n.1654+62_1654+69del
XR_931372.1:n.179-48_179-41del
XR_931373.1:n.319-48_319-41del
XR_931374.1:n.118-48_118-41del
NM_000834.4:c.1654+62_1654+69del	NP_000825.2:n.1654+62_1654+69del
XM_011520628.2:c.1654+62_1654+69del	XP_011518930.1:n.1654+62_1654+69del
XM_011520629.2:c.1654+62_1654+69del	XP_011518931.1:n.1654+62_1654+69del
XM_017019219.2:c.1654+62_1654+69del	XP_016874708.1:n.1654+62_1654+69del
XR_001749013.1:n.600-48_600-41del
XR_931372.2:n.316-48_316-41del
XR_931373.2:n.458-48_458-41del
NM_000834.5:c.1654+62_1654+69del MANE Select	NP_000825.2:n.1654+62_1654+69del