Canonical Allele Identifier: CA431952396
Gene: CHRND HGNC NCBI

Linked Data

dbSNP Id: rs1574637576
MyVariant Identifiers: chr2:g.233398944A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534234A>C , CM000664.2:g.232534234A>C GRCh38
NC_000002.11:g.233398944A>C , CM000664.1:g.233398944A>C GRCh37
NC_000002.10:g.233107188A>C NCBI36
NG_008028.1:g.13023A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1263A>C MANE Select ENSP00000258385.3:p.Pro421=
ENST00000258385.7:c.1263A>C ENSP00000258385.3:p.Pro421=
ENST00000441621.6:c.*445A>C ENSP00000408819.2:n.*445A>C
ENST00000446616.1:c.*904A>C ENSP00000410801.1:n.*904A>C
ENST00000543200.5:c.1218A>C ENSP00000438380.1:p.Pro406=
NM_000751.2:c.1263A>C NP_000742.1:p.Pro421=
NM_001256657.1:c.1218A>C NP_001243586.1:p.Pro406=
NM_001311195.1:c.681A>C NP_001298124.1:p.Pro227=
NM_001311196.1:c.960A>C NP_001298125.1:p.Pro320=
NR_046333.1:c.-4294966288A>C
NR_046334.1:c.-4294966009A>C
XM_011510524.1:c.882A>C XP_011508826.1:p.Pro294=
XM_011510524.2:c.882A>C XP_011508826.1:p.Pro294=
NM_000751.3:c.1263A>C MANE Select NP_000742.1:p.Pro421=
NM_001311195.2:c.681A>C NP_001298124.1:p.Pro227=
NM_001311196.2:c.960A>C NP_001298125.1:p.Pro320=
NM_001256657.2:c.1218A>C NP_001243586.1:p.Pro406=