Canonical Allele Identifier: CA2168330

Gene: CHRND

Linked Data

• ClinVar Variation Id: 466190
• ClinVar RCV Id: RCV000542114 ; RCV001141061 ; RCV000762329
• dbSNP Id: rs144433265
• ExAC: 2:233399048 A / G
• gnomAD v2: 2-233399048-A-G
• gnomAD v3: 2-232534338-A-G
• gnomAD v4: 2-232534338-A-G
• MyVariant Identifiers: chr2:g.233399048A>G (hg19) ; chr2:g.232534338A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534338A>G , CM000664.2:g.232534338A>G	GRCh38
NC_000002.11:g.233399048A>G , CM000664.1:g.233399048A>G	GRCh37
NC_000002.10:g.233107292A>G	NCBI36
NG_008028.1:g.13127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1367A>G MANE Select	ENSP00000258385.3:p.Asn456Ser
ENST00000258385.7:c.1367A>G	ENSP00000258385.3:p.Asn456Ser
ENST00000441621.6:c.*549A>G	ENSP00000408819.2:n.*549A>G
ENST00000446616.1:c.*1008A>G	ENSP00000410801.1:n.*1008A>G
ENST00000543200.5:c.1322A>G	ENSP00000438380.1:p.Asn441Ser
NM_000751.2:c.1367A>G	NP_000742.1:p.Asn456Ser
NM_001256657.1:c.1322A>G	NP_001243586.1:p.Asn441Ser
NM_001311195.1:c.785A>G	NP_001298124.1:p.Asn262Ser
NM_001311196.1:c.1064A>G	NP_001298125.1:p.Asn355Ser
NR_046333.1:c.-4294966184A>G
NR_046334.1:c.-4294965905A>G
XM_011510524.1:c.986A>G	XP_011508826.1:p.Asn329Ser
XM_011510524.2:c.986A>G	XP_011508826.1:p.Asn329Ser
NM_000751.3:c.1367A>G MANE Select	NP_000742.1:p.Asn456Ser
NM_001311195.2:c.785A>G	NP_001298124.1:p.Asn262Ser
NM_001311196.2:c.1064A>G	NP_001298125.1:p.Asn355Ser
NM_001256657.2:c.1322A>G	NP_001243586.1:p.Asn441Ser