Canonical Allele Identifier: CA478771408
Gene: GRIN2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.13761711C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13608777C>G , CM000674.2:g.13608777C>G GRCh38
NC_000012.11:g.13761711C>G , CM000674.1:g.13761711C>G GRCh37
NC_000012.10:g.13652978C>G NCBI36
NG_031854.1:g.376312G>C
NG_031854.2:g.378236G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.1836G>C MANE Select ENSP00000477455.1:p.Leu612=
ENST00000628166.2:n.96G>C
ENST00000609686.3:c.1836G>C ENSP00000477455.1:p.Leu612=
ENST00000628166.1:n.96G>C
NM_000834.3:c.1836G>C NP_000825.2:p.Leu612=
XM_011520628.1:c.1836G>C XP_011518930.1:p.Leu612=
XM_011520629.1:c.1836G>C XP_011518931.1:p.Leu612=
XM_011520630.1:c.1836G>C XP_011518932.1:p.Leu612=
XR_931372.1:n.179-6321C>G
XR_931373.1:n.318+20C>G
NM_000834.4:c.1836G>C NP_000825.2:p.Leu612=
XM_011520628.2:c.1836G>C XP_011518930.1:p.Leu612=
XM_011520629.2:c.1836G>C XP_011518931.1:p.Leu612=
XM_017019219.2:c.1836G>C XP_016874708.1:p.Leu612=
XR_001749013.1:n.457+20C>G
XR_931372.2:n.316-6321C>G
XR_931373.2:n.457+20C>G
NM_000834.5:c.1836G>C MANE Select NP_000825.2:p.Leu612=