Canonical Allele Identifier: CA351005048

Gene: CHRND

Linked Data

• dbSNP Id: rs1200058759
• gnomAD v2: 2-233398702-G-C
• gnomAD v4: 2-232533992-G-C
• MyVariant Identifiers: chr2:g.233398702G>C (hg19) ; chr2:g.232533992G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232533992G>C , CM000664.2:g.232533992G>C	GRCh38
NC_000002.11:g.233398702G>C , CM000664.1:g.233398702G>C	GRCh37
NC_000002.10:g.233106946G>C	NCBI36
NG_008028.1:g.12781G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1109G>C MANE Select	ENSP00000258385.3:p.Ser370Thr
ENST00000258385.7:c.1109G>C	ENSP00000258385.3:p.Ser370Thr
ENST00000441621.6:c.*291G>C	ENSP00000408819.2:n.*291G>C
ENST00000446616.1:c.*750G>C	ENSP00000410801.1:n.*750G>C
ENST00000543200.5:c.1064G>C	ENSP00000438380.1:p.Ser355Thr
NM_000751.2:c.1109G>C	NP_000742.1:p.Ser370Thr
NM_001256657.1:c.1064G>C	NP_001243586.1:p.Ser355Thr
NM_001311195.1:c.527G>C	NP_001298124.1:p.Ser176Thr
NM_001311196.1:c.806G>C	NP_001298125.1:p.Ser269Thr
NR_046333.1:c.-4294966442G>C
NR_046334.1:c.-4294966163G>C
XM_011510524.1:c.728G>C	XP_011508826.1:p.Ser243Thr
XM_011510524.2:c.728G>C	XP_011508826.1:p.Ser243Thr
NM_000751.3:c.1109G>C MANE Select	NP_000742.1:p.Ser370Thr
NM_001311195.2:c.527G>C	NP_001298124.1:p.Ser176Thr
NM_001311196.2:c.806G>C	NP_001298125.1:p.Ser269Thr
NM_001256657.2:c.1064G>C	NP_001243586.1:p.Ser355Thr