Canonical Allele Identifier: CA394715545

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1691583
• ClinVar RCV Id: RCV002254989
• dbSNP Id: rs2142390004
• gnomAD v4: 16-10180221-G-A
• MyVariant Identifiers: chr16:g.10274078G>A (hg19) ; chr16:g.10180221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180221G>A , CM000678.2:g.10180221G>A	GRCh38
NC_000016.9:g.10274078G>A , CM000678.1:g.10274078G>A	GRCh37
NC_000016.8:g.10181579G>A	NCBI36
NG_011812.1:g.7534C>T
NG_011812.2:g.7534C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.191C>T MANE Select	ENSP00000332549.3:p.Pro64Leu
ENST00000675189.1:n.675C>T
ENST00000675398.1:c.191C>T	ENSP00000502752.1:p.Pro64Leu
ENST00000676032.1:n.624C>T
ENST00000330684.3:c.191C>T	ENSP00000332549.3:p.Pro64Leu
ENST00000396573.6:c.191C>T	ENSP00000379818.2:p.Pro64Leu
ENST00000562109.5:c.191C>T	ENSP00000454998.1:p.Pro64Leu
ENST00000566665.1:n.592C>T
NM_000833.4:c.191C>T	NP_000824.1:p.Pro64Leu
NM_001134407.2:c.191C>T	NP_001127879.1:p.Pro64Leu
NM_001134408.2:c.191C>T	NP_001127880.1:p.Pro64Leu
XM_011522461.1:c.191C>T	XP_011520763.1:p.Pro64Leu
XM_011522461.3:c.191C>T	XP_011520763.1:p.Pro64Leu
XM_017023172.1:c.347C>T	XP_016878661.1:p.Pro116Leu
XM_017023173.1:c.347C>T	XP_016878662.1:p.Pro116Leu
NM_001134407.3:c.191C>T MANE Select	NP_001127879.1:p.Pro64Leu
NM_000833.5:c.191C>T	NP_000824.1:p.Pro64Leu