Canonical Allele Identifier: CA350997599

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233393077A>C (hg19) ; chr2:g.232528367A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528367A>C , CM000664.2:g.232528367A>C	GRCh38
NC_000002.11:g.233393077A>C , CM000664.1:g.233393077A>C	GRCh37
NC_000002.10:g.233101321A>C	NCBI36
NG_008028.1:g.7156A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.349A>C MANE Select	ENSP00000258385.3:p.Asn117His
ENST00000258385.7:c.349A>C	ENSP00000258385.3:p.Asn117His
ENST00000412233.5:c.349A>C	ENSP00000398143.1:p.Asn117His
ENST00000441621.6:c.349A>C	ENSP00000408819.2:p.Asn117His
ENST00000446616.1:c.321+28A>C	ENSP00000410801.1:n.321+28A>C
ENST00000449596.5:c.304A>C	ENSP00000404950.1:p.Asn102His
ENST00000543200.5:c.304A>C	ENSP00000438380.1:p.Asn102His
NM_000751.2:c.349A>C	NP_000742.1:p.Asn117His
NM_001256657.1:c.304A>C	NP_001243586.1:p.Asn102His
NM_001311195.1:c.78A>C	NP_001298124.1:p.Arg26Ser
NM_001311196.1:c.50+28A>C	NP_001298125.1:n.50+28A>C
NR_046333.1:c.-4294966891A>C
NR_046334.1:c.-4294966919+28A>C
XM_011510524.1:c.78A>C	XP_011508826.1:p.Arg26Ser
XM_011510524.2:c.78A>C	XP_011508826.1:p.Arg26Ser
NM_000751.3:c.349A>C MANE Select	NP_000742.1:p.Asn117His
NM_001311195.2:c.78A>C	NP_001298124.1:p.Arg26Ser
NM_001311196.2:c.50+28A>C	NP_001298125.1:n.50+28A>C
NM_001256657.2:c.304A>C	NP_001243586.1:p.Asn102His