Canonical Allele Identifier: CA2168327

Gene: CHRND

Linked Data

• ClinVar Variation Id: 334973
• ClinVar RCV Id: RCV000327287 ; RCV000381775
• dbSNP Id: rs776972228
• ExAC: 2:233399040 C / T
• gnomAD v2: 2-233399040-C-T
• gnomAD v3: 2-232534330-C-T
• gnomAD v4: 2-232534330-C-T
• MyVariant Identifiers: chr2:g.233399040C>T (hg19) ; chr2:g.232534330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534330C>T , CM000664.2:g.232534330C>T	GRCh38
NC_000002.11:g.233399040C>T , CM000664.1:g.233399040C>T	GRCh37
NC_000002.10:g.233107284C>T	NCBI36
NG_008028.1:g.13119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1359C>T MANE Select	ENSP00000258385.3:p.Asn453=
ENST00000258385.7:c.1359C>T	ENSP00000258385.3:p.Asn453=
ENST00000441621.6:c.*541C>T	ENSP00000408819.2:n.*541C>T
ENST00000446616.1:c.*1000C>T	ENSP00000410801.1:n.*1000C>T
ENST00000543200.5:c.1314C>T	ENSP00000438380.1:p.Asn438=
NM_000751.2:c.1359C>T	NP_000742.1:p.Asn453=
NM_001256657.1:c.1314C>T	NP_001243586.1:p.Asn438=
NM_001311195.1:c.777C>T	NP_001298124.1:p.Asn259=
NM_001311196.1:c.1056C>T	NP_001298125.1:p.Asn352=
NR_046333.1:c.-4294966192C>T
NR_046334.1:c.-4294965913C>T
XM_011510524.1:c.978C>T	XP_011508826.1:p.Asn326=
XM_011510524.2:c.978C>T	XP_011508826.1:p.Asn326=
NM_000751.3:c.1359C>T MANE Select	NP_000742.1:p.Asn453=
NM_001311195.2:c.777C>T	NP_001298124.1:p.Asn259=
NM_001311196.2:c.1056C>T	NP_001298125.1:p.Asn352=
NM_001256657.2:c.1314C>T	NP_001243586.1:p.Asn438=