Canonical Allele Identifier: CA431952563

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398808A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534098A>C , CM000664.2:g.232534098A>C	GRCh38
NC_000002.11:g.233398808A>C , CM000664.1:g.233398808A>C	GRCh37
NC_000002.10:g.233107052A>C	NCBI36
NG_008028.1:g.12887A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1215A>C MANE Select	ENSP00000258385.3:p.Ser405=
ENST00000258385.7:c.1215A>C	ENSP00000258385.3:p.Ser405=
ENST00000441621.6:c.*397A>C	ENSP00000408819.2:n.*397A>C
ENST00000446616.1:c.*856A>C	ENSP00000410801.1:n.*856A>C
ENST00000543200.5:c.1170A>C	ENSP00000438380.1:p.Ser390=
NM_000751.2:c.1215A>C	NP_000742.1:p.Ser405=
NM_001256657.1:c.1170A>C	NP_001243586.1:p.Ser390=
NM_001311195.1:c.633A>C	NP_001298124.1:p.Ser211=
NM_001311196.1:c.912A>C	NP_001298125.1:p.Ser304=
NR_046333.1:c.-4294966336A>C
NR_046334.1:c.-4294966057A>C
XM_011510524.1:c.834A>C	XP_011508826.1:p.Ser278=
XM_011510524.2:c.834A>C	XP_011508826.1:p.Ser278=
NM_000751.3:c.1215A>C MANE Select	NP_000742.1:p.Ser405=
NM_001311195.2:c.633A>C	NP_001298124.1:p.Ser211=
NM_001311196.2:c.912A>C	NP_001298125.1:p.Ser304=
NM_001256657.2:c.1170A>C	NP_001243586.1:p.Ser390=