Canonical Allele Identifier: CA350997416

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233392991T>A (hg19) ; chr2:g.232528281T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528281T>A , CM000664.2:g.232528281T>A	GRCh38
NC_000002.11:g.233392991T>A , CM000664.1:g.233392991T>A	GRCh37
NC_000002.10:g.233101235T>A	NCBI36
NG_008028.1:g.7070T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.263T>A MANE Select	ENSP00000258385.3:p.Leu88Gln
ENST00000258385.7:c.263T>A	ENSP00000258385.3:p.Leu88Gln
ENST00000412233.5:c.263T>A	ENSP00000398143.1:p.Leu88Gln
ENST00000441621.6:c.263T>A	ENSP00000408819.2:p.Leu88Gln
ENST00000446616.1:c.263T>A	ENSP00000410801.1:p.Leu88Gln
ENST00000449596.5:c.218T>A	ENSP00000404950.1:p.Leu73Gln
ENST00000543200.5:c.218T>A	ENSP00000438380.1:p.Leu73Gln
NM_000751.2:c.263T>A	NP_000742.1:p.Leu88Gln
NM_001256657.1:c.218T>A	NP_001243586.1:p.Leu73Gln
NM_001311195.1:c.-9T>A	NP_001298124.1:n.-9T>A
NM_001311196.1:c.-9T>A	NP_001298125.1:n.-9T>A
NR_046333.1:c.-4294966977T>A
NR_046334.1:c.-4294966977T>A
XM_011510524.1:c.-9T>A	XP_011508826.1:n.-9T>A
XM_011510524.2:c.-9T>A	XP_011508826.1:n.-9T>A
NM_000751.3:c.263T>A MANE Select	NP_000742.1:p.Leu88Gln
NM_001311195.2:c.-9T>A	NP_001298124.1:n.-9T>A
NM_001311196.2:c.-9T>A	NP_001298125.1:n.-9T>A
NM_001256657.2:c.218T>A	NP_001243586.1:p.Leu73Gln