Canonical Allele Identifier: CA351005577

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398975T>C (hg19) ; chr2:g.232534265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534265T>C , CM000664.2:g.232534265T>C	GRCh38
NC_000002.11:g.233398975T>C , CM000664.1:g.233398975T>C	GRCh37
NC_000002.10:g.233107219T>C	NCBI36
NG_008028.1:g.13054T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1294T>C MANE Select	ENSP00000258385.3:p.Phe432Leu
ENST00000258385.7:c.1294T>C	ENSP00000258385.3:p.Phe432Leu
ENST00000441621.6:c.*476T>C	ENSP00000408819.2:n.*476T>C
ENST00000446616.1:c.*935T>C	ENSP00000410801.1:n.*935T>C
ENST00000543200.5:c.1249T>C	ENSP00000438380.1:p.Phe417Leu
NM_000751.2:c.1294T>C	NP_000742.1:p.Phe432Leu
NM_001256657.1:c.1249T>C	NP_001243586.1:p.Phe417Leu
NM_001311195.1:c.712T>C	NP_001298124.1:p.Phe238Leu
NM_001311196.1:c.991T>C	NP_001298125.1:p.Phe331Leu
NR_046333.1:c.-4294966257T>C
NR_046334.1:c.-4294965978T>C
XM_011510524.1:c.913T>C	XP_011508826.1:p.Phe305Leu
XM_011510524.2:c.913T>C	XP_011508826.1:p.Phe305Leu
NM_000751.3:c.1294T>C MANE Select	NP_000742.1:p.Phe432Leu
NM_001311195.2:c.712T>C	NP_001298124.1:p.Phe238Leu
NM_001311196.2:c.991T>C	NP_001298125.1:p.Phe331Leu
NM_001256657.2:c.1249T>C	NP_001243586.1:p.Phe417Leu