Canonical Allele Identifier: CA351005854

Gene: CHRND

Linked Data

• ClinVar Variation Id: 2440044
• ClinVar RCV Id: RCV003144944
• gnomAD v4: 2-232534337-A-T
• MyVariant Identifiers: chr2:g.233399047A>T (hg19) ; chr2:g.232534337A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534337A>T , CM000664.2:g.232534337A>T	GRCh38
NC_000002.11:g.233399047A>T , CM000664.1:g.233399047A>T	GRCh37
NC_000002.10:g.233107291A>T	NCBI36
NG_008028.1:g.13126A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1366A>T MANE Select	ENSP00000258385.3:p.Asn456Tyr
ENST00000258385.7:c.1366A>T	ENSP00000258385.3:p.Asn456Tyr
ENST00000441621.6:c.*548A>T	ENSP00000408819.2:n.*548A>T
ENST00000446616.1:c.*1007A>T	ENSP00000410801.1:n.*1007A>T
ENST00000543200.5:c.1321A>T	ENSP00000438380.1:p.Asn441Tyr
NM_000751.2:c.1366A>T	NP_000742.1:p.Asn456Tyr
NM_001256657.1:c.1321A>T	NP_001243586.1:p.Asn441Tyr
NM_001311195.1:c.784A>T	NP_001298124.1:p.Asn262Tyr
NM_001311196.1:c.1063A>T	NP_001298125.1:p.Asn355Tyr
NR_046333.1:c.-4294966185A>T
NR_046334.1:c.-4294965906A>T
XM_011510524.1:c.985A>T	XP_011508826.1:p.Asn329Tyr
XM_011510524.2:c.985A>T	XP_011508826.1:p.Asn329Tyr
NM_000751.3:c.1366A>T MANE Select	NP_000742.1:p.Asn456Tyr
NM_001311195.2:c.784A>T	NP_001298124.1:p.Asn262Tyr
NM_001311196.2:c.1063A>T	NP_001298125.1:p.Asn355Tyr
NM_001256657.2:c.1321A>T	NP_001243586.1:p.Asn441Tyr