Canonical Allele Identifier: CA2168328

Gene: CHRND

Linked Data

• dbSNP Id: rs759993951
• ExAC: 2:233399041 A / G
• gnomAD v2: 2-233399041-A-G
• gnomAD v4: 2-232534331-A-G
• MyVariant Identifiers: chr2:g.233399041A>G (hg19) ; chr2:g.232534331A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534331A>G , CM000664.2:g.232534331A>G	GRCh38
NC_000002.11:g.233399041A>G , CM000664.1:g.233399041A>G	GRCh37
NC_000002.10:g.233107285A>G	NCBI36
NG_008028.1:g.13120A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1360A>G MANE Select	ENSP00000258385.3:p.Asn454Asp
ENST00000258385.7:c.1360A>G	ENSP00000258385.3:p.Asn454Asp
ENST00000441621.6:c.*542A>G	ENSP00000408819.2:n.*542A>G
ENST00000446616.1:c.*1001A>G	ENSP00000410801.1:n.*1001A>G
ENST00000543200.5:c.1315A>G	ENSP00000438380.1:p.Asn439Asp
NM_000751.2:c.1360A>G	NP_000742.1:p.Asn454Asp
NM_001256657.1:c.1315A>G	NP_001243586.1:p.Asn439Asp
NM_001311195.1:c.778A>G	NP_001298124.1:p.Asn260Asp
NM_001311196.1:c.1057A>G	NP_001298125.1:p.Asn353Asp
NR_046333.1:c.-4294966191A>G
NR_046334.1:c.-4294965912A>G
XM_011510524.1:c.979A>G	XP_011508826.1:p.Asn327Asp
XM_011510524.2:c.979A>G	XP_011508826.1:p.Asn327Asp
NM_000751.3:c.1360A>G MANE Select	NP_000742.1:p.Asn454Asp
NM_001311195.2:c.778A>G	NP_001298124.1:p.Asn260Asp
NM_001311196.2:c.1057A>G	NP_001298125.1:p.Asn353Asp
NM_001256657.2:c.1315A>G	NP_001243586.1:p.Asn439Asp