Canonical Allele Identifier: CA2168283

Gene: CHRND

Linked Data

• ClinVar Variation Id: 1312096
• ClinVar RCV Id: RCV001761317
• dbSNP Id: rs770837281
• ExAC: 2:233398780 G / T
• gnomAD v2: 2-233398780-G-T
• gnomAD v3: 2-232534070-G-T
• gnomAD v4: 2-232534070-G-T
• MyVariant Identifiers: chr2:g.233398780G>T (hg19) ; chr2:g.232534070G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534070G>T , CM000664.2:g.232534070G>T	GRCh38
NC_000002.11:g.233398780G>T , CM000664.1:g.233398780G>T	GRCh37
NC_000002.10:g.233107024G>T	NCBI36
NG_008028.1:g.12859G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1187G>T MANE Select	ENSP00000258385.3:p.Arg396Leu
ENST00000258385.7:c.1187G>T	ENSP00000258385.3:p.Arg396Leu
ENST00000441621.6:c.*369G>T	ENSP00000408819.2:n.*369G>T
ENST00000446616.1:c.*828G>T	ENSP00000410801.1:n.*828G>T
ENST00000543200.5:c.1142G>T	ENSP00000438380.1:p.Arg381Leu
NM_000751.2:c.1187G>T	NP_000742.1:p.Arg396Leu
NM_001256657.1:c.1142G>T	NP_001243586.1:p.Arg381Leu
NM_001311195.1:c.605G>T	NP_001298124.1:p.Arg202Leu
NM_001311196.1:c.884G>T	NP_001298125.1:p.Arg295Leu
NR_046333.1:c.-4294966364G>T
NR_046334.1:c.-4294966085G>T
XM_011510524.1:c.806G>T	XP_011508826.1:p.Arg269Leu
XM_011510524.2:c.806G>T	XP_011508826.1:p.Arg269Leu
NM_000751.3:c.1187G>T MANE Select	NP_000742.1:p.Arg396Leu
NM_001311195.2:c.605G>T	NP_001298124.1:p.Arg202Leu
NM_001311196.2:c.884G>T	NP_001298125.1:p.Arg295Leu
NM_001256657.2:c.1142G>T	NP_001243586.1:p.Arg381Leu