Canonical Allele Identifier: CA351005041

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398699C>T (hg19) ; chr2:g.232533989C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232533989C>T , CM000664.2:g.232533989C>T	GRCh38
NC_000002.11:g.233398699C>T , CM000664.1:g.233398699C>T	GRCh37
NC_000002.10:g.233106943C>T	NCBI36
NG_008028.1:g.12778C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1106C>T MANE Select	ENSP00000258385.3:p.Pro369Leu
ENST00000258385.7:c.1106C>T	ENSP00000258385.3:p.Pro369Leu
ENST00000441621.6:c.*288C>T	ENSP00000408819.2:n.*288C>T
ENST00000446616.1:c.*747C>T	ENSP00000410801.1:n.*747C>T
ENST00000543200.5:c.1061C>T	ENSP00000438380.1:p.Pro354Leu
NM_000751.2:c.1106C>T	NP_000742.1:p.Pro369Leu
NM_001256657.1:c.1061C>T	NP_001243586.1:p.Pro354Leu
NM_001311195.1:c.524C>T	NP_001298124.1:p.Pro175Leu
NM_001311196.1:c.803C>T	NP_001298125.1:p.Pro268Leu
NR_046333.1:c.-4294966445C>T
NR_046334.1:c.-4294966166C>T
XM_011510524.1:c.725C>T	XP_011508826.1:p.Pro242Leu
XM_011510524.2:c.725C>T	XP_011508826.1:p.Pro242Leu
NM_000751.3:c.1106C>T MANE Select	NP_000742.1:p.Pro369Leu
NM_001311195.2:c.524C>T	NP_001298124.1:p.Pro175Leu
NM_001311196.2:c.803C>T	NP_001298125.1:p.Pro268Leu
NM_001256657.2:c.1061C>T	NP_001243586.1:p.Pro354Leu