Canonical Allele Identifier: CA431952551
Gene: CHRND HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.233398778C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534068C>G , CM000664.2:g.232534068C>G GRCh38
NC_000002.11:g.233398778C>G , CM000664.1:g.233398778C>G GRCh37
NC_000002.10:g.233107022C>G NCBI36
NG_008028.1:g.12857C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1185C>G MANE Select ENSP00000258385.3:p.Ser395=
ENST00000258385.7:c.1185C>G ENSP00000258385.3:p.Ser395=
ENST00000441621.6:c.*367C>G ENSP00000408819.2:n.*367C>G
ENST00000446616.1:c.*826C>G ENSP00000410801.1:n.*826C>G
ENST00000543200.5:c.1140C>G ENSP00000438380.1:p.Ser380=
NM_000751.2:c.1185C>G NP_000742.1:p.Ser395=
NM_001256657.1:c.1140C>G NP_001243586.1:p.Ser380=
NM_001311195.1:c.603C>G NP_001298124.1:p.Ser201=
NM_001311196.1:c.882C>G NP_001298125.1:p.Ser294=
NR_046333.1:c.-4294966366C>G
NR_046334.1:c.-4294966087C>G
XM_011510524.1:c.804C>G XP_011508826.1:p.Ser268=
XM_011510524.2:c.804C>G XP_011508826.1:p.Ser268=
NM_000751.3:c.1185C>G MANE Select NP_000742.1:p.Ser395=
NM_001311195.2:c.603C>G NP_001298124.1:p.Ser201=
NM_001311196.2:c.882C>G NP_001298125.1:p.Ser294=
NM_001256657.2:c.1140C>G NP_001243586.1:p.Ser380=