Canonical Allele Identifier: CA621175178

Gene: GRIN2A

Linked Data

• dbSNP Id: rs1239111149
• gnomAD v2: 16-9858670-TCATGTTGGA-T
• gnomAD v3: 16-9764813-TCATGTTGGA-T
• gnomAD v4: 16-9764813-TCATGTTGGA-T
• MyVariant Identifiers: chr16:g.9858671_9858679del (hg19) ; chr16:g.9764814_9764822del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764818_9764826del , CM000678.2:g.9764818_9764826del	GRCh38
NC_000016.9:g.9858675_9858683del , CM000678.1:g.9858675_9858683del	GRCh37
NC_000016.8:g.9766176_9766184del	NCBI36
NG_011812.1:g.422933_422941del
NG_011812.2:g.422933_422941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2722_2730del MANE Select	ENSP00000332549.3:p.Ser908_Met910del
ENST00000535259.6:c.2251_2259del	ENSP00000441572.3:p.Ser751_Met753del
ENST00000636273.2:n.2315_2323del
ENST00000674742.1:c.2251_2259del	ENSP00000502200.1:p.Ser751_Met753del
ENST00000675398.1:c.*92_*100del	ENSP00000502752.1:n.*92_*100del
ENST00000330684.3:c.2722_2730del	ENSP00000332549.3:p.Ser908_Met910del
ENST00000396573.6:c.2722_2730del	ENSP00000379818.2:p.Ser908_Met910del
ENST00000396575.6:c.2311_2319del	ENSP00000379820.3:p.Ser771_Met773del
ENST00000461292.3:n.2361_2369del
ENST00000535259.5:c.2311_2319del	ENSP00000441572.2:p.Ser771_Met773del
ENST00000562109.5:c.2722_2730del	ENSP00000454998.1:p.Ser908_Met910del
NM_000833.4:c.2722_2730del	NP_000824.1:p.Ser908_Met910del
NM_001134407.2:c.2722_2730del	NP_001127879.1:p.Ser908_Met910del
NM_001134408.2:c.2722_2730del	NP_001127880.1:p.Ser908_Met910del
XM_011522456.1:c.2563_2571del	XP_011520758.1:p.Ser855_Met857del
XM_011522457.1:c.2464_2472del	XP_011520759.1:p.Ser822_Met824del
XM_011522458.1:c.2251_2259del	XP_011520760.1:p.Ser751_Met753del
XM_011522459.1:c.2251_2259del	XP_011520761.1:p.Ser751_Met753del
XM_011522460.1:c.2251_2259del	XP_011520762.1:p.Ser751_Met753del
XM_011522461.1:c.2722_2730del	XP_011520763.1:p.Ser908_Met910del
XM_011522458.3:c.2251_2259del	XP_011520760.1:p.Ser751_Met753del
XM_011522461.3:c.2722_2730del	XP_011520763.1:p.Ser908_Met910del
XM_017023172.1:c.2878_2886del	XP_016878661.1:p.Ser960_Met962del
XM_017023173.1:c.2878_2886del	XP_016878662.1:p.Ser960_Met962del
NM_001134407.3:c.2722_2730del MANE Select	NP_001127879.1:p.Ser908_Met910del
NM_000833.5:c.2722_2730del	NP_000824.1:p.Ser908_Met910del