Canonical Allele Identifier: CA351005667

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398996G>C (hg19) ; chr2:g.232534286G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534286G>C , CM000664.2:g.232534286G>C	GRCh38
NC_000002.11:g.233398996G>C , CM000664.1:g.233398996G>C	GRCh37
NC_000002.10:g.233107240G>C	NCBI36
NG_008028.1:g.13075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1315G>C MANE Select	ENSP00000258385.3:p.Val439Leu
ENST00000258385.7:c.1315G>C	ENSP00000258385.3:p.Val439Leu
ENST00000441621.6:c.*497G>C	ENSP00000408819.2:n.*497G>C
ENST00000446616.1:c.*956G>C	ENSP00000410801.1:n.*956G>C
ENST00000543200.5:c.1270G>C	ENSP00000438380.1:p.Val424Leu
NM_000751.2:c.1315G>C	NP_000742.1:p.Val439Leu
NM_001256657.1:c.1270G>C	NP_001243586.1:p.Val424Leu
NM_001311195.1:c.733G>C	NP_001298124.1:p.Val245Leu
NM_001311196.1:c.1012G>C	NP_001298125.1:p.Val338Leu
NR_046333.1:c.-4294966236G>C
NR_046334.1:c.-4294965957G>C
XM_011510524.1:c.934G>C	XP_011508826.1:p.Val312Leu
XM_011510524.2:c.934G>C	XP_011508826.1:p.Val312Leu
NM_000751.3:c.1315G>C MANE Select	NP_000742.1:p.Val439Leu
NM_001311195.2:c.733G>C	NP_001298124.1:p.Val245Leu
NM_001311196.2:c.1012G>C	NP_001298125.1:p.Val338Leu
NM_001256657.2:c.1270G>C	NP_001243586.1:p.Val424Leu