Canonical Allele Identifier: CA431809020

Gene: CHRND

Linked Data

• dbSNP Id: rs1312097140
• gnomAD v2: 2-233399845-A-G
• gnomAD v4: 2-232535135-A-G
• MyVariant Identifiers: chr2:g.233399845A>G (hg19) ; chr2:g.232535135A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535135A>G , CM000664.2:g.232535135A>G	GRCh38
NC_000002.11:g.233399845A>G , CM000664.1:g.233399845A>G	GRCh37
NC_000002.10:g.233108089A>G	NCBI36
NG_008028.1:g.13924A>G
NG_012954.1:g.409A>G
NG_012954.2:g.444A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1377A>G MANE Select	ENSP00000258385.3:p.Lys459=
ENST00000258385.7:c.1377A>G	ENSP00000258385.3:p.Lys459=
ENST00000441621.6:c.*559A>G	ENSP00000408819.2:n.*559A>G
ENST00000446616.1:c.*1018A>G	ENSP00000410801.1:n.*1018A>G
ENST00000543200.5:c.1332A>G	ENSP00000438380.1:p.Lys444=
NM_000751.2:c.1377A>G	NP_000742.1:p.Lys459=
NM_001256657.1:c.1332A>G	NP_001243586.1:p.Lys444=
NM_001311195.1:c.795A>G	NP_001298124.1:p.Lys265=
NM_001311196.1:c.1074A>G	NP_001298125.1:p.Lys358=
NR_046333.1:c.-4294966174A>G
NR_046334.1:c.-4294965895A>G
XM_011510524.1:c.996A>G	XP_011508826.1:p.Lys332=
XM_011510524.2:c.996A>G	XP_011508826.1:p.Lys332=
NM_000751.3:c.1377A>G MANE Select	NP_000742.1:p.Lys459=
NM_001311195.2:c.795A>G	NP_001298124.1:p.Lys265=
NM_001311196.2:c.1074A>G	NP_001298125.1:p.Lys358=
NM_001256657.2:c.1332A>G	NP_001243586.1:p.Lys444=