Canonical Allele Identifier: CA351005731

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534301-T-G
• MyVariant Identifiers: chr2:g.233399011T>G (hg19) ; chr2:g.232534301T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534301T>G , CM000664.2:g.232534301T>G	GRCh38
NC_000002.11:g.233399011T>G , CM000664.1:g.233399011T>G	GRCh37
NC_000002.10:g.233107255T>G	NCBI36
NG_008028.1:g.13090T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1330T>G MANE Select	ENSP00000258385.3:p.Phe444Val
ENST00000258385.7:c.1330T>G	ENSP00000258385.3:p.Phe444Val
ENST00000441621.6:c.*512T>G	ENSP00000408819.2:n.*512T>G
ENST00000446616.1:c.*971T>G	ENSP00000410801.1:n.*971T>G
ENST00000543200.5:c.1285T>G	ENSP00000438380.1:p.Phe429Val
NM_000751.2:c.1330T>G	NP_000742.1:p.Phe444Val
NM_001256657.1:c.1285T>G	NP_001243586.1:p.Phe429Val
NM_001311195.1:c.748T>G	NP_001298124.1:p.Phe250Val
NM_001311196.1:c.1027T>G	NP_001298125.1:p.Phe343Val
NR_046333.1:c.-4294966221T>G
NR_046334.1:c.-4294965942T>G
XM_011510524.1:c.949T>G	XP_011508826.1:p.Phe317Val
XM_011510524.2:c.949T>G	XP_011508826.1:p.Phe317Val
NM_000751.3:c.1330T>G MANE Select	NP_000742.1:p.Phe444Val
NM_001311195.2:c.748T>G	NP_001298124.1:p.Phe250Val
NM_001311196.2:c.1027T>G	NP_001298125.1:p.Phe343Val
NM_001256657.2:c.1285T>G	NP_001243586.1:p.Phe429Val