Canonical Allele Identifier: CA351005266

Gene: CHRND

Linked Data

• dbSNP Id: rs1373683202
• gnomAD v2: 2-233398804-A-T
• MyVariant Identifiers: chr2:g.233398804A>T (hg19) ; chr2:g.232534094A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534094A>T , CM000664.2:g.232534094A>T	GRCh38
NC_000002.11:g.233398804A>T , CM000664.1:g.233398804A>T	GRCh37
NC_000002.10:g.233107048A>T	NCBI36
NG_008028.1:g.12883A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1211A>T MANE Select	ENSP00000258385.3:p.Gln404Leu
ENST00000258385.7:c.1211A>T	ENSP00000258385.3:p.Gln404Leu
ENST00000441621.6:c.*393A>T	ENSP00000408819.2:n.*393A>T
ENST00000446616.1:c.*852A>T	ENSP00000410801.1:n.*852A>T
ENST00000543200.5:c.1166A>T	ENSP00000438380.1:p.Gln389Leu
NM_000751.2:c.1211A>T	NP_000742.1:p.Gln404Leu
NM_001256657.1:c.1166A>T	NP_001243586.1:p.Gln389Leu
NM_001311195.1:c.629A>T	NP_001298124.1:p.Gln210Leu
NM_001311196.1:c.908A>T	NP_001298125.1:p.Gln303Leu
NR_046333.1:c.-4294966340A>T
NR_046334.1:c.-4294966061A>T
XM_011510524.1:c.830A>T	XP_011508826.1:p.Gln277Leu
XM_011510524.2:c.830A>T	XP_011508826.1:p.Gln277Leu
NM_000751.3:c.1211A>T MANE Select	NP_000742.1:p.Gln404Leu
NM_001311195.2:c.629A>T	NP_001298124.1:p.Gln210Leu
NM_001311196.2:c.908A>T	NP_001298125.1:p.Gln303Leu
NM_001256657.2:c.1166A>T	NP_001243586.1:p.Gln389Leu