Canonical Allele Identifier: CA2017447749
Gene: GRIN2B HGNC NCBI

Linked Data

dbSNP Id: rs1949320648

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13608695_13608696insCGTTCTTTCTT , CM000674.2:g.13608695_13608696insCGTTCTTTCTT GRCh38
NC_000012.11:g.13761629_13761630insCGTTCTTTCTT , CM000674.1:g.13761629_13761630insCGTTCTTTCTT GRCh37
NC_000012.10:g.13652896_13652897insCGTTCTTTCTT NCBI36
NG_031854.1:g.376393_376394insAAGAAAGAACG
NG_031854.2:g.378317_378318insAAGAAAGAACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.1917_1918insAAGAAAGAACG MANE Select ENSP00000477455.1:p.Val640LysfsTer15
ENST00000628166.2:n.177_178insAAGAAAGAACG
ENST00000609686.3:c.1917_1918insAAGAAAGAACG ENSP00000477455.1:p.Val640LysfsTer15
ENST00000628166.1:n.177_178insAAGAAAGAACG
NM_000834.3:c.1917_1918insAAGAAAGAACG NP_000825.2:p.Val640LysfsTer15
XM_011520628.1:c.1917_1918insAAGAAAGAACG XP_011518930.1:p.Val640LysfsTer15
XM_011520629.1:c.1917_1918insAAGAAAGAACG XP_011518931.1:p.Val640LysfsTer15
XM_011520630.1:c.1917_1918insAAGAAAGAACG XP_011518932.1:p.Val640LysfsTer15
XR_931372.1:n.179-6403_179-6402insCGTTCTTTCTT
XR_931373.1:n.256_257insCGTTCTTTCTT
NM_000834.4:c.1917_1918insAAGAAAGAACG NP_000825.2:p.Val640LysfsTer15
XM_011520628.2:c.1917_1918insAAGAAAGAACG XP_011518930.1:p.Val640LysfsTer15
XM_011520629.2:c.1917_1918insAAGAAAGAACG XP_011518931.1:p.Val640LysfsTer15
XM_017019219.2:c.1917_1918insAAGAAAGAACG XP_016874708.1:p.Val640LysfsTer15
XR_001749013.1:n.395_396insCGTTCTTTCTT
XR_931372.2:n.316-6403_316-6402insCGTTCTTTCTT
XR_931373.2:n.395_396insCGTTCTTTCTT
NM_000834.5:c.1917_1918insAAGAAAGAACG MANE Select NP_000825.2:p.Val640LysfsTer15