Canonical Allele Identifier: CA351005300

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398822T>A (hg19) ; chr2:g.232534112T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534112T>A , CM000664.2:g.232534112T>A	GRCh38
NC_000002.11:g.233398822T>A , CM000664.1:g.233398822T>A	GRCh37
NC_000002.10:g.233107066T>A	NCBI36
NG_008028.1:g.12901T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1229T>A MANE Select	ENSP00000258385.3:p.Leu410Gln
ENST00000258385.7:c.1229T>A	ENSP00000258385.3:p.Leu410Gln
ENST00000441621.6:c.*411T>A	ENSP00000408819.2:n.*411T>A
ENST00000446616.1:c.*870T>A	ENSP00000410801.1:n.*870T>A
ENST00000543200.5:c.1184T>A	ENSP00000438380.1:p.Leu395Gln
NM_000751.2:c.1229T>A	NP_000742.1:p.Leu410Gln
NM_001256657.1:c.1184T>A	NP_001243586.1:p.Leu395Gln
NM_001311195.1:c.647T>A	NP_001298124.1:p.Leu216Gln
NM_001311196.1:c.926T>A	NP_001298125.1:p.Leu309Gln
NR_046333.1:c.-4294966322T>A
NR_046334.1:c.-4294966043T>A
XM_011510524.1:c.848T>A	XP_011508826.1:p.Leu283Gln
XM_011510524.2:c.848T>A	XP_011508826.1:p.Leu283Gln
NM_000751.3:c.1229T>A MANE Select	NP_000742.1:p.Leu410Gln
NM_001311195.2:c.647T>A	NP_001298124.1:p.Leu216Gln
NM_001311196.2:c.926T>A	NP_001298125.1:p.Leu309Gln
NM_001256657.2:c.1184T>A	NP_001243586.1:p.Leu395Gln