Canonical Allele Identifier: CA351005049

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398703C>A (hg19) ; chr2:g.232533993C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232533993C>A , CM000664.2:g.232533993C>A	GRCh38
NC_000002.11:g.233398703C>A , CM000664.1:g.233398703C>A	GRCh37
NC_000002.10:g.233106947C>A	NCBI36
NG_008028.1:g.12782C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1110C>A MANE Select	ENSP00000258385.3:p.Ser370Arg
ENST00000258385.7:c.1110C>A	ENSP00000258385.3:p.Ser370Arg
ENST00000441621.6:c.*292C>A	ENSP00000408819.2:n.*292C>A
ENST00000446616.1:c.*751C>A	ENSP00000410801.1:n.*751C>A
ENST00000543200.5:c.1065C>A	ENSP00000438380.1:p.Ser355Arg
NM_000751.2:c.1110C>A	NP_000742.1:p.Ser370Arg
NM_001256657.1:c.1065C>A	NP_001243586.1:p.Ser355Arg
NM_001311195.1:c.528C>A	NP_001298124.1:p.Ser176Arg
NM_001311196.1:c.807C>A	NP_001298125.1:p.Ser269Arg
NR_046333.1:c.-4294966441C>A
NR_046334.1:c.-4294966162C>A
XM_011510524.1:c.729C>A	XP_011508826.1:p.Ser243Arg
XM_011510524.2:c.729C>A	XP_011508826.1:p.Ser243Arg
NM_000751.3:c.1110C>A MANE Select	NP_000742.1:p.Ser370Arg
NM_001311195.2:c.528C>A	NP_001298124.1:p.Ser176Arg
NM_001311196.2:c.807C>A	NP_001298125.1:p.Ser269Arg
NM_001256657.2:c.1065C>A	NP_001243586.1:p.Ser355Arg