Canonical Allele Identifier: CA351005094

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534017-C-A
• MyVariant Identifiers: chr2:g.233398727C>A (hg19) ; chr2:g.232534017C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534017C>A , CM000664.2:g.232534017C>A	GRCh38
NC_000002.11:g.233398727C>A , CM000664.1:g.233398727C>A	GRCh37
NC_000002.10:g.233106971C>A	NCBI36
NG_008028.1:g.12806C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1134C>A MANE Select	ENSP00000258385.3:p.Ser378Arg
ENST00000258385.7:c.1134C>A	ENSP00000258385.3:p.Ser378Arg
ENST00000441621.6:c.*316C>A	ENSP00000408819.2:n.*316C>A
ENST00000446616.1:c.*775C>A	ENSP00000410801.1:n.*775C>A
ENST00000543200.5:c.1089C>A	ENSP00000438380.1:p.Ser363Arg
NM_000751.2:c.1134C>A	NP_000742.1:p.Ser378Arg
NM_001256657.1:c.1089C>A	NP_001243586.1:p.Ser363Arg
NM_001311195.1:c.552C>A	NP_001298124.1:p.Ser184Arg
NM_001311196.1:c.831C>A	NP_001298125.1:p.Ser277Arg
NR_046333.1:c.-4294966417C>A
NR_046334.1:c.-4294966138C>A
XM_011510524.1:c.753C>A	XP_011508826.1:p.Ser251Arg
XM_011510524.2:c.753C>A	XP_011508826.1:p.Ser251Arg
NM_000751.3:c.1134C>A MANE Select	NP_000742.1:p.Ser378Arg
NM_001311195.2:c.552C>A	NP_001298124.1:p.Ser184Arg
NM_001311196.2:c.831C>A	NP_001298125.1:p.Ser277Arg
NM_001256657.2:c.1089C>A	NP_001243586.1:p.Ser363Arg