Canonical Allele Identifier: CA7896923

Gene: GRIN2A

Linked Data

• dbSNP Id: rs763785374
• ExAC: 16:10032213 T / A
• gnomAD v2: 16-10032213-T-A
• gnomAD v4: 16-9938356-T-A
• MyVariant Identifiers: chr16:g.10032213T>A (hg19) ; chr16:g.9938356T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938356T>A , CM000678.2:g.9938356T>A	GRCh38
NC_000016.9:g.10032213T>A , CM000678.1:g.10032213T>A	GRCh37
NC_000016.8:g.9939714T>A	NCBI36
NG_011812.1:g.249399A>T
NG_011812.2:g.249399A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.610A>T MANE Select	ENSP00000332549.3:p.Ile204Phe
ENST00000535259.6:c.139A>T	ENSP00000441572.3:p.Ile47Phe
ENST00000636273.2:n.203A>T
ENST00000637393.1:c.202A>T	ENSP00000490232.1:p.Ile68Phe
ENST00000674742.1:c.139A>T	ENSP00000502200.1:p.Ile47Phe
ENST00000675189.1:n.1094A>T
ENST00000675398.1:c.610A>T	ENSP00000502752.1:p.Ile204Phe
ENST00000330684.3:c.610A>T	ENSP00000332549.3:p.Ile204Phe
ENST00000396573.6:c.610A>T	ENSP00000379818.2:p.Ile204Phe
ENST00000396575.6:c.199A>T	ENSP00000379820.3:p.Ile67Phe
ENST00000461292.3:n.249A>T
ENST00000535259.5:c.199A>T	ENSP00000441572.2:p.Ile67Phe
ENST00000562109.5:c.610A>T	ENSP00000454998.1:p.Ile204Phe
ENST00000566670.2:n.452A>T
ENST00000566683.1:n.241-47256A>T
ENST00000568247.3:n.502A>T
NM_000833.4:c.610A>T	NP_000824.1:p.Ile204Phe
NM_001134407.2:c.610A>T	NP_001127879.1:p.Ile204Phe
NM_001134408.2:c.610A>T	NP_001127880.1:p.Ile204Phe
XM_011522456.1:c.451A>T	XP_011520758.1:p.Ile151Phe
XM_011522457.1:c.352A>T	XP_011520759.1:p.Ile118Phe
XM_011522458.1:c.139A>T	XP_011520760.1:p.Ile47Phe
XM_011522459.1:c.139A>T	XP_011520761.1:p.Ile47Phe
XM_011522460.1:c.139A>T	XP_011520762.1:p.Ile47Phe
XM_011522461.1:c.610A>T	XP_011520763.1:p.Ile204Phe
XM_011522458.3:c.139A>T	XP_011520760.1:p.Ile47Phe
XM_011522461.3:c.610A>T	XP_011520763.1:p.Ile204Phe
XM_017023172.1:c.766A>T	XP_016878661.1:p.Ile256Phe
XM_017023173.1:c.766A>T	XP_016878662.1:p.Ile256Phe
NM_001134407.3:c.610A>T MANE Select	NP_001127879.1:p.Ile204Phe
NM_000833.5:c.610A>T	NP_000824.1:p.Ile204Phe