Canonical Allele Identifier: CA478771415

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1109294
• ClinVar RCV Id: RCV001435124
• dbSNP Id: rs1949321963
• MyVariant Identifiers: chr12:g.13761723C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608789C>T , CM000674.2:g.13608789C>T	GRCh38
NC_000012.11:g.13761723C>T , CM000674.1:g.13761723C>T	GRCh37
NC_000012.10:g.13652990C>T	NCBI36
NG_031854.1:g.376300G>A
NG_031854.2:g.378224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1824G>A MANE Select	ENSP00000477455.1:p.Leu608=
ENST00000628166.2:n.84G>A
ENST00000609686.3:c.1824G>A	ENSP00000477455.1:p.Leu608=
ENST00000628166.1:n.84G>A
NM_000834.3:c.1824G>A	NP_000825.2:p.Leu608=
XM_011520628.1:c.1824G>A	XP_011518930.1:p.Leu608=
XM_011520629.1:c.1824G>A	XP_011518931.1:p.Leu608=
XM_011520630.1:c.1824G>A	XP_011518932.1:p.Leu608=
XR_931372.1:n.179-6309C>T
XR_931373.1:n.318+32C>T
NM_000834.4:c.1824G>A	NP_000825.2:p.Leu608=
XM_011520628.2:c.1824G>A	XP_011518930.1:p.Leu608=
XM_011520629.2:c.1824G>A	XP_011518931.1:p.Leu608=
XM_017019219.2:c.1824G>A	XP_016874708.1:p.Leu608=
XR_001749013.1:n.457+32C>T
XR_931372.2:n.316-6309C>T
XR_931373.2:n.457+32C>T
NM_000834.5:c.1824G>A MANE Select	NP_000825.2:p.Leu608=