Canonical Allele Identifier: CA351005532

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398964A>T (hg19) ; chr2:g.232534254A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534254A>T , CM000664.2:g.232534254A>T	GRCh38
NC_000002.11:g.233398964A>T , CM000664.1:g.233398964A>T	GRCh37
NC_000002.10:g.233107208A>T	NCBI36
NG_008028.1:g.13043A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1283A>T MANE Select	ENSP00000258385.3:p.Gln428Leu
ENST00000258385.7:c.1283A>T	ENSP00000258385.3:p.Gln428Leu
ENST00000441621.6:c.*465A>T	ENSP00000408819.2:n.*465A>T
ENST00000446616.1:c.*924A>T	ENSP00000410801.1:n.*924A>T
ENST00000543200.5:c.1238A>T	ENSP00000438380.1:p.Gln413Leu
NM_000751.2:c.1283A>T	NP_000742.1:p.Gln428Leu
NM_001256657.1:c.1238A>T	NP_001243586.1:p.Gln413Leu
NM_001311195.1:c.701A>T	NP_001298124.1:p.Gln234Leu
NM_001311196.1:c.980A>T	NP_001298125.1:p.Gln327Leu
NR_046333.1:c.-4294966268A>T
NR_046334.1:c.-4294965989A>T
XM_011510524.1:c.902A>T	XP_011508826.1:p.Gln301Leu
XM_011510524.2:c.902A>T	XP_011508826.1:p.Gln301Leu
NM_000751.3:c.1283A>T MANE Select	NP_000742.1:p.Gln428Leu
NM_001311195.2:c.701A>T	NP_001298124.1:p.Gln234Leu
NM_001311196.2:c.980A>T	NP_001298125.1:p.Gln327Leu
NM_001256657.2:c.1238A>T	NP_001243586.1:p.Gln413Leu