Canonical Allele Identifier: CA431952493

Gene: CHRND

Linked Data

• dbSNP Id: rs1362920655
• gnomAD v4: 2-232534327-G-A
• MyVariant Identifiers: chr2:g.233399037G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534327G>A , CM000664.2:g.232534327G>A	GRCh38
NC_000002.11:g.233399037G>A , CM000664.1:g.233399037G>A	GRCh37
NC_000002.10:g.233107281G>A	NCBI36
NG_008028.1:g.13116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1356G>A MANE Select	ENSP00000258385.3:p.Gln452=
ENST00000258385.7:c.1356G>A	ENSP00000258385.3:p.Gln452=
ENST00000441621.6:c.*538G>A	ENSP00000408819.2:n.*538G>A
ENST00000446616.1:c.*997G>A	ENSP00000410801.1:n.*997G>A
ENST00000543200.5:c.1311G>A	ENSP00000438380.1:p.Gln437=
NM_000751.2:c.1356G>A	NP_000742.1:p.Gln452=
NM_001256657.1:c.1311G>A	NP_001243586.1:p.Gln437=
NM_001311195.1:c.774G>A	NP_001298124.1:p.Gln258=
NM_001311196.1:c.1053G>A	NP_001298125.1:p.Gln351=
NR_046333.1:c.-4294966195G>A
NR_046334.1:c.-4294965916G>A
XM_011510524.1:c.975G>A	XP_011508826.1:p.Gln325=
XM_011510524.2:c.975G>A	XP_011508826.1:p.Gln325=
NM_000751.3:c.1356G>A MANE Select	NP_000742.1:p.Gln452=
NM_001311195.2:c.774G>A	NP_001298124.1:p.Gln258=
NM_001311196.2:c.1053G>A	NP_001298125.1:p.Gln351=
NM_001256657.2:c.1311G>A	NP_001243586.1:p.Gln437=