Canonical Allele Identifier: CA351005260

Gene: CHRND

Linked Data

• dbSNP Id: rs1195635400
• gnomAD v2: 2-233398802-G-T
• gnomAD v4: 2-232534092-G-T
• MyVariant Identifiers: chr2:g.233398802G>T (hg19) ; chr2:g.232534092G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534092G>T , CM000664.2:g.232534092G>T	GRCh38
NC_000002.11:g.233398802G>T , CM000664.1:g.233398802G>T	GRCh37
NC_000002.10:g.233107046G>T	NCBI36
NG_008028.1:g.12881G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1209G>T MANE Select	ENSP00000258385.3:p.Lys403Asn
ENST00000258385.7:c.1209G>T	ENSP00000258385.3:p.Lys403Asn
ENST00000441621.6:c.*391G>T	ENSP00000408819.2:n.*391G>T
ENST00000446616.1:c.*850G>T	ENSP00000410801.1:n.*850G>T
ENST00000543200.5:c.1164G>T	ENSP00000438380.1:p.Lys388Asn
NM_000751.2:c.1209G>T	NP_000742.1:p.Lys403Asn
NM_001256657.1:c.1164G>T	NP_001243586.1:p.Lys388Asn
NM_001311195.1:c.627G>T	NP_001298124.1:p.Lys209Asn
NM_001311196.1:c.906G>T	NP_001298125.1:p.Lys302Asn
NR_046333.1:c.-4294966342G>T
NR_046334.1:c.-4294966063G>T
XM_011510524.1:c.828G>T	XP_011508826.1:p.Lys276Asn
XM_011510524.2:c.828G>T	XP_011508826.1:p.Lys276Asn
NM_000751.3:c.1209G>T MANE Select	NP_000742.1:p.Lys403Asn
NM_001311195.2:c.627G>T	NP_001298124.1:p.Lys209Asn
NM_001311196.2:c.906G>T	NP_001298125.1:p.Lys302Asn
NM_001256657.2:c.1164G>T	NP_001243586.1:p.Lys388Asn