Canonical Allele Identifier: CA351005322

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398833C>A (hg19) ; chr2:g.232534123C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534123C>A , CM000664.2:g.232534123C>A	GRCh38
NC_000002.11:g.233398833C>A , CM000664.1:g.233398833C>A	GRCh37
NC_000002.10:g.233107077C>A	NCBI36
NG_008028.1:g.12912C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1240C>A MANE Select	ENSP00000258385.3:p.Leu414Ile
ENST00000258385.7:c.1240C>A	ENSP00000258385.3:p.Leu414Ile
ENST00000441621.6:c.*422C>A	ENSP00000408819.2:n.*422C>A
ENST00000446616.1:c.*881C>A	ENSP00000410801.1:n.*881C>A
ENST00000543200.5:c.1195C>A	ENSP00000438380.1:p.Leu399Ile
NM_000751.2:c.1240C>A	NP_000742.1:p.Leu414Ile
NM_001256657.1:c.1195C>A	NP_001243586.1:p.Leu399Ile
NM_001311195.1:c.658C>A	NP_001298124.1:p.Leu220Ile
NM_001311196.1:c.937C>A	NP_001298125.1:p.Leu313Ile
NR_046333.1:c.-4294966311C>A
NR_046334.1:c.-4294966032C>A
XM_011510524.1:c.859C>A	XP_011508826.1:p.Leu287Ile
XM_011510524.2:c.859C>A	XP_011508826.1:p.Leu287Ile
NM_000751.3:c.1240C>A MANE Select	NP_000742.1:p.Leu414Ile
NM_001311195.2:c.658C>A	NP_001298124.1:p.Leu220Ile
NM_001311196.2:c.937C>A	NP_001298125.1:p.Leu313Ile
NM_001256657.2:c.1195C>A	NP_001243586.1:p.Leu399Ile