Canonical Allele Identifier: CA351005210

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534070-G-C
• MyVariant Identifiers: chr2:g.233398780G>C (hg19) ; chr2:g.232534070G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534070G>C , CM000664.2:g.232534070G>C	GRCh38
NC_000002.11:g.233398780G>C , CM000664.1:g.233398780G>C	GRCh37
NC_000002.10:g.233107024G>C	NCBI36
NG_008028.1:g.12859G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1187G>C MANE Select	ENSP00000258385.3:p.Arg396Pro
ENST00000258385.7:c.1187G>C	ENSP00000258385.3:p.Arg396Pro
ENST00000441621.6:c.*369G>C	ENSP00000408819.2:n.*369G>C
ENST00000446616.1:c.*828G>C	ENSP00000410801.1:n.*828G>C
ENST00000543200.5:c.1142G>C	ENSP00000438380.1:p.Arg381Pro
NM_000751.2:c.1187G>C	NP_000742.1:p.Arg396Pro
NM_001256657.1:c.1142G>C	NP_001243586.1:p.Arg381Pro
NM_001311195.1:c.605G>C	NP_001298124.1:p.Arg202Pro
NM_001311196.1:c.884G>C	NP_001298125.1:p.Arg295Pro
NR_046333.1:c.-4294966364G>C
NR_046334.1:c.-4294966085G>C
XM_011510524.1:c.806G>C	XP_011508826.1:p.Arg269Pro
XM_011510524.2:c.806G>C	XP_011508826.1:p.Arg269Pro
NM_000751.3:c.1187G>C MANE Select	NP_000742.1:p.Arg396Pro
NM_001311195.2:c.605G>C	NP_001298124.1:p.Arg202Pro
NM_001311196.2:c.884G>C	NP_001298125.1:p.Arg295Pro
NM_001256657.2:c.1142G>C	NP_001243586.1:p.Arg381Pro