Canonical Allele Identifier: CA351005913

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399853G>A (hg19) ; chr2:g.232535143G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1385G>A MANE Select	ENSP00000258385.3:p.Trp462Ter
ENST00000258385.7:c.1385G>A	ENSP00000258385.3:p.Trp462Ter
ENST00000441621.6:c.*567G>A	ENSP00000408819.2:n.*567G>A
ENST00000446616.1:c.*1026G>A	ENSP00000410801.1:n.*1026G>A
ENST00000543200.5:c.1340G>A	ENSP00000438380.1:p.Trp447Ter
NM_000751.2:c.1385G>A	NP_000742.1:p.Trp462Ter
NM_001256657.1:c.1340G>A	NP_001243586.1:p.Trp447Ter
NM_001311195.1:c.803G>A	NP_001298124.1:p.Trp268Ter
NM_001311196.1:c.1082G>A	NP_001298125.1:p.Trp361Ter
NR_046333.1:c.-4294966166G>A
NR_046334.1:c.-4294965887G>A
XM_011510524.1:c.1004G>A	XP_011508826.1:p.Trp335Ter
XM_011510524.2:c.1004G>A	XP_011508826.1:p.Trp335Ter
NM_000751.3:c.1385G>A MANE Select	NP_000742.1:p.Trp462Ter
NM_001311195.2:c.803G>A	NP_001298124.1:p.Trp268Ter
NM_001311196.2:c.1082G>A	NP_001298125.1:p.Trp361Ter
NM_001256657.2:c.1340G>A	NP_001243586.1:p.Trp447Ter