Canonical Allele Identifier: CA351005093

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398726G>T (hg19) ; chr2:g.232534016G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534016G>T , CM000664.2:g.232534016G>T	GRCh38
NC_000002.11:g.233398726G>T , CM000664.1:g.233398726G>T	GRCh37
NC_000002.10:g.233106970G>T	NCBI36
NG_008028.1:g.12805G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1133G>T MANE Select	ENSP00000258385.3:p.Ser378Ile
ENST00000258385.7:c.1133G>T	ENSP00000258385.3:p.Ser378Ile
ENST00000441621.6:c.*315G>T	ENSP00000408819.2:n.*315G>T
ENST00000446616.1:c.*774G>T	ENSP00000410801.1:n.*774G>T
ENST00000543200.5:c.1088G>T	ENSP00000438380.1:p.Ser363Ile
NM_000751.2:c.1133G>T	NP_000742.1:p.Ser378Ile
NM_001256657.1:c.1088G>T	NP_001243586.1:p.Ser363Ile
NM_001311195.1:c.551G>T	NP_001298124.1:p.Ser184Ile
NM_001311196.1:c.830G>T	NP_001298125.1:p.Ser277Ile
NR_046333.1:c.-4294966418G>T
NR_046334.1:c.-4294966139G>T
XM_011510524.1:c.752G>T	XP_011508826.1:p.Ser251Ile
XM_011510524.2:c.752G>T	XP_011508826.1:p.Ser251Ile
NM_000751.3:c.1133G>T MANE Select	NP_000742.1:p.Ser378Ile
NM_001311195.2:c.551G>T	NP_001298124.1:p.Ser184Ile
NM_001311196.2:c.830G>T	NP_001298125.1:p.Ser277Ile
NM_001256657.2:c.1088G>T	NP_001243586.1:p.Ser363Ile