Canonical Allele Identifier: CA350997392

Gene: CHRND

Linked Data

• gnomAD v4: 2-232528269-C-A
• COSMIC: COSM2153132
• MyVariant Identifiers: chr2:g.233392979C>A (hg19) ; chr2:g.232528269C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528269C>A , CM000664.2:g.232528269C>A	GRCh38
NC_000002.11:g.233392979C>A , CM000664.1:g.233392979C>A	GRCh37
NC_000002.10:g.233101223C>A	NCBI36
NG_008028.1:g.7058C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.251C>A MANE Select	ENSP00000258385.3:p.Thr84Lys
ENST00000258385.7:c.251C>A	ENSP00000258385.3:p.Thr84Lys
ENST00000412233.5:c.251C>A	ENSP00000398143.1:p.Thr84Lys
ENST00000441621.6:c.251C>A	ENSP00000408819.2:p.Thr84Lys
ENST00000446616.1:c.251C>A	ENSP00000410801.1:p.Thr84Lys
ENST00000449596.5:c.206C>A	ENSP00000404950.1:p.Thr69Lys
ENST00000543200.5:c.206C>A	ENSP00000438380.1:p.Thr69Lys
NM_000751.2:c.251C>A	NP_000742.1:p.Thr84Lys
NM_001256657.1:c.206C>A	NP_001243586.1:p.Thr69Lys
NM_001311195.1:c.-21C>A	NP_001298124.1:n.-21C>A
NM_001311196.1:c.-21C>A	NP_001298125.1:n.-21C>A
NR_046333.1:c.-4294966989C>A
NR_046334.1:c.-4294966989C>A
XM_011510524.1:c.-21C>A	XP_011508826.1:n.-21C>A
XM_011510524.2:c.-21C>A	XP_011508826.1:n.-21C>A
NM_000751.3:c.251C>A MANE Select	NP_000742.1:p.Thr84Lys
NM_001311195.2:c.-21C>A	NP_001298124.1:n.-21C>A
NM_001311196.2:c.-21C>A	NP_001298125.1:n.-21C>A
NM_001256657.2:c.206C>A	NP_001243586.1:p.Thr69Lys