Canonical Allele Identifier: CA351005276

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534099-G-C
• MyVariant Identifiers: chr2:g.233398809G>C (hg19) ; chr2:g.232534099G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534099G>C , CM000664.2:g.232534099G>C	GRCh38
NC_000002.11:g.233398809G>C , CM000664.1:g.233398809G>C	GRCh37
NC_000002.10:g.233107053G>C	NCBI36
NG_008028.1:g.12888G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1216G>C MANE Select	ENSP00000258385.3:p.Glu406Gln
ENST00000258385.7:c.1216G>C	ENSP00000258385.3:p.Glu406Gln
ENST00000441621.6:c.*398G>C	ENSP00000408819.2:n.*398G>C
ENST00000446616.1:c.*857G>C	ENSP00000410801.1:n.*857G>C
ENST00000543200.5:c.1171G>C	ENSP00000438380.1:p.Glu391Gln
NM_000751.2:c.1216G>C	NP_000742.1:p.Glu406Gln
NM_001256657.1:c.1171G>C	NP_001243586.1:p.Glu391Gln
NM_001311195.1:c.634G>C	NP_001298124.1:p.Glu212Gln
NM_001311196.1:c.913G>C	NP_001298125.1:p.Glu305Gln
NR_046333.1:c.-4294966335G>C
NR_046334.1:c.-4294966056G>C
XM_011510524.1:c.835G>C	XP_011508826.1:p.Glu279Gln
XM_011510524.2:c.835G>C	XP_011508826.1:p.Glu279Gln
NM_000751.3:c.1216G>C MANE Select	NP_000742.1:p.Glu406Gln
NM_001311195.2:c.634G>C	NP_001298124.1:p.Glu212Gln
NM_001311196.2:c.913G>C	NP_001298125.1:p.Glu305Gln
NM_001256657.2:c.1171G>C	NP_001243586.1:p.Glu391Gln