Canonical Allele Identifier: CA2011029

Gene: NEUROD1 CERKL

Linked Data

• ClinVar Variation Id: 896247
• ClinVar RCV Id: RCV001138780 ; RCV001856777 ; RCV002468178 ; RCV003890287 ; RCV004032326
• dbSNP Id: rs754458532
• ExAC: 2:182542624 C / T
• gnomAD v2: 2-182542624-C-T
• gnomAD v3: 2-181677897-C-T
• gnomAD v4: 2-181677897-C-T
• MyVariant Identifiers: chr2:g.182542624C>T (hg19) ; chr2:g.181677897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181677897C>T , CM000664.2:g.181677897C>T	GRCh38
NC_000002.11:g.182542624C>T , CM000664.1:g.182542624C>T	GRCh37
NC_000002.10:g.182250869C>T	NCBI36
NG_011820.1:g.7758G>A
NG_011820.2:g.7768G>A
NG_011820.3:g.7621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496876.2:n.398+2533G>A (NEUROD1)
ENST00000683166.1:n.91+2533G>A (NEUROD1)
ENST00000683430.1:c.964G>A (NEUROD1)	ENSP00000506907.1:p.Ala322Thr
ENST00000684079.1:c.964G>A (NEUROD1)	ENSP00000507492.1:p.Ala322Thr
ENST00000684145.1:c.-455+2533G>A (CERKL)	ENSP00000508396.1:n.-455+2533G>A
ENST00000295108.4:c.964G>A (NEUROD1) MANE Select	ENSP00000295108.3:p.Ala322Thr
ENST00000295108.3:c.964G>A (NEUROD1)	ENSP00000295108.3:p.Ala322Thr
ENST00000479558.5:n.236+2533G>A (CERKL)
ENST00000496876.1:n.118+2533G>A (NEUROD1)
ENST00000497337.1:n.212+2533G>A (CERKL)
NM_002500.4:c.964G>A (NEUROD1)	NP_002491.2:p.Ala322Thr
NR_146175.1:n.236+2533G>A (NEUROD1)
NR_146176.1:n.236+2533G>A (NEUROD1)
NR_146176.2:n.88+2533G>A (NEUROD1)
NM_002500.5:c.964G>A (NEUROD1) MANE Select	NP_002491.3:p.Ala322Thr
NR_146175.2:n.88+2533G>A (NEUROD1)