Canonical Allele Identifier: CA351005072

Gene: CHRND

Linked Data

• dbSNP Id: rs2106214316
• MyVariant Identifiers: chr2:g.233398714T>C (hg19) ; chr2:g.232534004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534004T>C , CM000664.2:g.232534004T>C	GRCh38
NC_000002.11:g.233398714T>C , CM000664.1:g.233398714T>C	GRCh37
NC_000002.10:g.233106958T>C	NCBI36
NG_008028.1:g.12793T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1121T>C MANE Select	ENSP00000258385.3:p.Leu374Pro
ENST00000258385.7:c.1121T>C	ENSP00000258385.3:p.Leu374Pro
ENST00000441621.6:c.*303T>C	ENSP00000408819.2:n.*303T>C
ENST00000446616.1:c.*762T>C	ENSP00000410801.1:n.*762T>C
ENST00000543200.5:c.1076T>C	ENSP00000438380.1:p.Leu359Pro
NM_000751.2:c.1121T>C	NP_000742.1:p.Leu374Pro
NM_001256657.1:c.1076T>C	NP_001243586.1:p.Leu359Pro
NM_001311195.1:c.539T>C	NP_001298124.1:p.Leu180Pro
NM_001311196.1:c.818T>C	NP_001298125.1:p.Leu273Pro
NR_046333.1:c.-4294966430T>C
NR_046334.1:c.-4294966151T>C
XM_011510524.1:c.740T>C	XP_011508826.1:p.Leu247Pro
XM_011510524.2:c.740T>C	XP_011508826.1:p.Leu247Pro
NM_000751.3:c.1121T>C MANE Select	NP_000742.1:p.Leu374Pro
NM_001311195.2:c.539T>C	NP_001298124.1:p.Leu180Pro
NM_001311196.2:c.818T>C	NP_001298125.1:p.Leu273Pro
NM_001256657.2:c.1076T>C	NP_001243586.1:p.Leu359Pro