Canonical Allele Identifier: CA431952076

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233393013T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528303T>C , CM000664.2:g.232528303T>C	GRCh38
NC_000002.11:g.233393013T>C , CM000664.1:g.233393013T>C	GRCh37
NC_000002.10:g.233101257T>C	NCBI36
NG_008028.1:g.7092T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.285T>C MANE Select	ENSP00000258385.3:p.Phe95=
ENST00000258385.7:c.285T>C	ENSP00000258385.3:p.Phe95=
ENST00000412233.5:c.285T>C	ENSP00000398143.1:p.Phe95=
ENST00000441621.6:c.285T>C	ENSP00000408819.2:p.Phe95=
ENST00000446616.1:c.285T>C	ENSP00000410801.1:p.Phe95=
ENST00000449596.5:c.240T>C	ENSP00000404950.1:p.Phe80=
ENST00000543200.5:c.240T>C	ENSP00000438380.1:p.Phe80=
NM_000751.2:c.285T>C	NP_000742.1:p.Phe95=
NM_001256657.1:c.240T>C	NP_001243586.1:p.Phe80=
NM_001311195.1:c.14T>C	NP_001298124.1:p.Leu5Ser
NM_001311196.1:c.14T>C	NP_001298125.1:p.Leu5Ser
NR_046333.1:c.-4294966955T>C
NR_046334.1:c.-4294966955T>C
XM_011510524.1:c.14T>C	XP_011508826.1:p.Leu5Ser
XM_011510524.2:c.14T>C	XP_011508826.1:p.Leu5Ser
NM_000751.3:c.285T>C MANE Select	NP_000742.1:p.Phe95=
NM_001311195.2:c.14T>C	NP_001298124.1:p.Leu5Ser
NM_001311196.2:c.14T>C	NP_001298125.1:p.Leu5Ser
NM_001256657.2:c.240T>C	NP_001243586.1:p.Phe80=