Canonical Allele Identifier: CA16043388
Gene: CHRND HGNC NCBI

Linked Data

ClinVar Variation Id: 374185
ClinVar RCV Id: RCV000414846
dbSNP Id: rs1057518957
MyVariant Identifiers: chr2:g.233399853G>T (hg19) chr2:g.232535143G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232535143G>T , CM000664.2:g.232535143G>T GRCh38
NC_000002.11:g.233399853G>T , CM000664.1:g.233399853G>T GRCh37
NC_000002.10:g.233108097G>T NCBI36
NG_008028.1:g.13932G>T
NG_012954.1:g.417G>T
NG_012954.2:g.452G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258385.8:c.1385G>T MANE Select ENSP00000258385.3:p.Trp462Leu
ENST00000258385.7:c.1385G>T ENSP00000258385.3:p.Trp462Leu
ENST00000441621.6:c.*567G>T ENSP00000408819.2:n.*567G>T
ENST00000446616.1:c.*1026G>T ENSP00000410801.1:n.*1026G>T
ENST00000543200.5:c.1340G>T ENSP00000438380.1:p.Trp447Leu
NM_000751.2:c.1385G>T NP_000742.1:p.Trp462Leu
NM_001256657.1:c.1340G>T NP_001243586.1:p.Trp447Leu
NM_001311195.1:c.803G>T NP_001298124.1:p.Trp268Leu
NM_001311196.1:c.1082G>T NP_001298125.1:p.Trp361Leu
NR_046333.1:c.-4294966166G>T
NR_046334.1:c.-4294965887G>T
XM_011510524.1:c.1004G>T XP_011508826.1:p.Trp335Leu
XM_011510524.2:c.1004G>T XP_011508826.1:p.Trp335Leu
NM_000751.3:c.1385G>T MANE Select NP_000742.1:p.Trp462Leu
NM_001311195.2:c.803G>T NP_001298124.1:p.Trp268Leu
NM_001311196.2:c.1082G>T NP_001298125.1:p.Trp361Leu
NM_001256657.2:c.1340G>T NP_001243586.1:p.Trp447Leu
Search 100 bp 5'
Search 100 bp 3'