Canonical Allele Identifier: CA431952510

Gene: CHRND

Linked Data

• dbSNP Id: rs1438844656
• MyVariant Identifiers: chr2:g.233398715G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534005G>C , CM000664.2:g.232534005G>C	GRCh38
NC_000002.11:g.233398715G>C , CM000664.1:g.233398715G>C	GRCh37
NC_000002.10:g.233106959G>C	NCBI36
NG_008028.1:g.12794G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1122G>C MANE Select	ENSP00000258385.3:p.Leu374=
ENST00000258385.7:c.1122G>C	ENSP00000258385.3:p.Leu374=
ENST00000441621.6:c.*304G>C	ENSP00000408819.2:n.*304G>C
ENST00000446616.1:c.*763G>C	ENSP00000410801.1:n.*763G>C
ENST00000543200.5:c.1077G>C	ENSP00000438380.1:p.Leu359=
NM_000751.2:c.1122G>C	NP_000742.1:p.Leu374=
NM_001256657.1:c.1077G>C	NP_001243586.1:p.Leu359=
NM_001311195.1:c.540G>C	NP_001298124.1:p.Leu180=
NM_001311196.1:c.819G>C	NP_001298125.1:p.Leu273=
NR_046333.1:c.-4294966429G>C
NR_046334.1:c.-4294966150G>C
XM_011510524.1:c.741G>C	XP_011508826.1:p.Leu247=
XM_011510524.2:c.741G>C	XP_011508826.1:p.Leu247=
NM_000751.3:c.1122G>C MANE Select	NP_000742.1:p.Leu374=
NM_001311195.2:c.540G>C	NP_001298124.1:p.Leu180=
NM_001311196.2:c.819G>C	NP_001298125.1:p.Leu273=
NM_001256657.2:c.1077G>C	NP_001243586.1:p.Leu359=