Canonical Allele Identifier: CA350997551

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233393054G>T (hg19) ; chr2:g.232528344G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528344G>T , CM000664.2:g.232528344G>T	GRCh38
NC_000002.11:g.233393054G>T , CM000664.1:g.233393054G>T	GRCh37
NC_000002.10:g.233101298G>T	NCBI36
NG_008028.1:g.7133G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.326G>T MANE Select	ENSP00000258385.3:p.Trp109Leu
ENST00000258385.7:c.326G>T	ENSP00000258385.3:p.Trp109Leu
ENST00000412233.5:c.326G>T	ENSP00000398143.1:p.Trp109Leu
ENST00000441621.6:c.326G>T	ENSP00000408819.2:p.Trp109Leu
ENST00000446616.1:c.321+5G>T	ENSP00000410801.1:n.321+5G>T
ENST00000449596.5:c.281G>T	ENSP00000404950.1:p.Trp94Leu
ENST00000543200.5:c.281G>T	ENSP00000438380.1:p.Trp94Leu
NM_000751.2:c.326G>T	NP_000742.1:p.Trp109Leu
NM_001256657.1:c.281G>T	NP_001243586.1:p.Trp94Leu
NM_001311195.1:c.55G>T	NP_001298124.1:p.Gly19Cys
NM_001311196.1:c.50+5G>T	NP_001298125.1:n.50+5G>T
NR_046333.1:c.-4294966914G>T
NR_046334.1:c.-4294966919+5G>T
XM_011510524.1:c.55G>T	XP_011508826.1:p.Gly19Cys
XM_011510524.2:c.55G>T	XP_011508826.1:p.Gly19Cys
NM_000751.3:c.326G>T MANE Select	NP_000742.1:p.Trp109Leu
NM_001311195.2:c.55G>T	NP_001298124.1:p.Gly19Cys
NM_001311196.2:c.50+5G>T	NP_001298125.1:n.50+5G>T
NM_001256657.2:c.281G>T	NP_001243586.1:p.Trp94Leu