Canonical Allele Identifier: CA66957567

Gene: CHRND

Linked Data

• dbSNP Id: rs942911426
• MyVariant Identifiers: chr2:g.233398842G>T (hg19) ; chr2:g.232534132G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534132G>T , CM000664.2:g.232534132G>T	GRCh38
NC_000002.11:g.233398842G>T , CM000664.1:g.233398842G>T	GRCh37
NC_000002.10:g.233107086G>T	NCBI36
NG_008028.1:g.12921G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1249G>T MANE Select	ENSP00000258385.3:p.Ala417Ser
ENST00000258385.7:c.1249G>T	ENSP00000258385.3:p.Ala417Ser
ENST00000441621.6:c.*431G>T	ENSP00000408819.2:n.*431G>T
ENST00000446616.1:c.*890G>T	ENSP00000410801.1:n.*890G>T
ENST00000543200.5:c.1204G>T	ENSP00000438380.1:p.Ala402Ser
NM_000751.2:c.1249G>T	NP_000742.1:p.Ala417Ser
NM_001256657.1:c.1204G>T	NP_001243586.1:p.Ala402Ser
NM_001311195.1:c.667G>T	NP_001298124.1:p.Ala223Ser
NM_001311196.1:c.946G>T	NP_001298125.1:p.Ala316Ser
NR_046333.1:c.-4294966302G>T
NR_046334.1:c.-4294966023G>T
XM_011510524.1:c.868G>T	XP_011508826.1:p.Ala290Ser
XM_011510524.2:c.868G>T	XP_011508826.1:p.Ala290Ser
NM_000751.3:c.1249G>T MANE Select	NP_000742.1:p.Ala417Ser
NM_001311195.2:c.667G>T	NP_001298124.1:p.Ala223Ser
NM_001311196.2:c.946G>T	NP_001298125.1:p.Ala316Ser
NM_001256657.2:c.1204G>T	NP_001243586.1:p.Ala402Ser