Canonical Allele Identifier: CA351005065

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398710G>C (hg19) ; chr2:g.232534000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534000G>C , CM000664.2:g.232534000G>C	GRCh38
NC_000002.11:g.233398710G>C , CM000664.1:g.233398710G>C	GRCh37
NC_000002.10:g.233106954G>C	NCBI36
NG_008028.1:g.12789G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1117G>C MANE Select	ENSP00000258385.3:p.Ala373Pro
ENST00000258385.7:c.1117G>C	ENSP00000258385.3:p.Ala373Pro
ENST00000441621.6:c.*299G>C	ENSP00000408819.2:n.*299G>C
ENST00000446616.1:c.*758G>C	ENSP00000410801.1:n.*758G>C
ENST00000543200.5:c.1072G>C	ENSP00000438380.1:p.Ala358Pro
NM_000751.2:c.1117G>C	NP_000742.1:p.Ala373Pro
NM_001256657.1:c.1072G>C	NP_001243586.1:p.Ala358Pro
NM_001311195.1:c.535G>C	NP_001298124.1:p.Ala179Pro
NM_001311196.1:c.814G>C	NP_001298125.1:p.Ala272Pro
NR_046333.1:c.-4294966434G>C
NR_046334.1:c.-4294966155G>C
XM_011510524.1:c.736G>C	XP_011508826.1:p.Ala246Pro
XM_011510524.2:c.736G>C	XP_011508826.1:p.Ala246Pro
NM_000751.3:c.1117G>C MANE Select	NP_000742.1:p.Ala373Pro
NM_001311195.2:c.535G>C	NP_001298124.1:p.Ala179Pro
NM_001311196.2:c.814G>C	NP_001298125.1:p.Ala272Pro
NM_001256657.2:c.1072G>C	NP_001243586.1:p.Ala358Pro