Canonical Allele Identifier: CA351005728

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399011T>A (hg19) ; chr2:g.232534301T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1330T>A MANE Select	ENSP00000258385.3:p.Phe444Ile
ENST00000258385.7:c.1330T>A	ENSP00000258385.3:p.Phe444Ile
ENST00000441621.6:c.*512T>A	ENSP00000408819.2:n.*512T>A
ENST00000446616.1:c.*971T>A	ENSP00000410801.1:n.*971T>A
ENST00000543200.5:c.1285T>A	ENSP00000438380.1:p.Phe429Ile
NM_000751.2:c.1330T>A	NP_000742.1:p.Phe444Ile
NM_001256657.1:c.1285T>A	NP_001243586.1:p.Phe429Ile
NM_001311195.1:c.748T>A	NP_001298124.1:p.Phe250Ile
NM_001311196.1:c.1027T>A	NP_001298125.1:p.Phe343Ile
NR_046333.1:c.-4294966221T>A
NR_046334.1:c.-4294965942T>A
XM_011510524.1:c.949T>A	XP_011508826.1:p.Phe317Ile
XM_011510524.2:c.949T>A	XP_011508826.1:p.Phe317Ile
NM_000751.3:c.1330T>A MANE Select	NP_000742.1:p.Phe444Ile
NM_001311195.2:c.748T>A	NP_001298124.1:p.Phe250Ile
NM_001311196.2:c.1027T>A	NP_001298125.1:p.Phe343Ile
NM_001256657.2:c.1285T>A	NP_001243586.1:p.Phe429Ile