Canonical Allele Identifier: CA2168275

Gene: CHRND

Linked Data

• ClinVar Variation Id: 1910937
• ClinVar RCV Id: RCV002589489
• dbSNP Id: rs753512039
• ExAC: 2:233398744 T / A
• gnomAD v2: 2-233398744-T-A
• gnomAD v4: 2-232534034-T-A
• MyVariant Identifiers: chr2:g.233398744T>A (hg19) ; chr2:g.232534034T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534034T>A , CM000664.2:g.232534034T>A	GRCh38
NC_000002.11:g.233398744T>A , CM000664.1:g.233398744T>A	GRCh37
NC_000002.10:g.233106988T>A	NCBI36
NG_008028.1:g.12823T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1151T>A MANE Select	ENSP00000258385.3:p.Ile384Asn
ENST00000258385.7:c.1151T>A	ENSP00000258385.3:p.Ile384Asn
ENST00000441621.6:c.*333T>A	ENSP00000408819.2:n.*333T>A
ENST00000446616.1:c.*792T>A	ENSP00000410801.1:n.*792T>A
ENST00000543200.5:c.1106T>A	ENSP00000438380.1:p.Ile369Asn
NM_000751.2:c.1151T>A	NP_000742.1:p.Ile384Asn
NM_001256657.1:c.1106T>A	NP_001243586.1:p.Ile369Asn
NM_001311195.1:c.569T>A	NP_001298124.1:p.Ile190Asn
NM_001311196.1:c.848T>A	NP_001298125.1:p.Ile283Asn
NR_046333.1:c.-4294966400T>A
NR_046334.1:c.-4294966121T>A
XM_011510524.1:c.770T>A	XP_011508826.1:p.Ile257Asn
XM_011510524.2:c.770T>A	XP_011508826.1:p.Ile257Asn
NM_000751.3:c.1151T>A MANE Select	NP_000742.1:p.Ile384Asn
NM_001311195.2:c.569T>A	NP_001298124.1:p.Ile190Asn
NM_001311196.2:c.848T>A	NP_001298125.1:p.Ile283Asn
NM_001256657.2:c.1106T>A	NP_001243586.1:p.Ile369Asn