Canonical Allele Identifier: CA351005185

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398768T>A (hg19) ; chr2:g.232534058T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534058T>A , CM000664.2:g.232534058T>A	GRCh38
NC_000002.11:g.233398768T>A , CM000664.1:g.233398768T>A	GRCh37
NC_000002.10:g.233107012T>A	NCBI36
NG_008028.1:g.12847T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1175T>A MANE Select	ENSP00000258385.3:p.Leu392Gln
ENST00000258385.7:c.1175T>A	ENSP00000258385.3:p.Leu392Gln
ENST00000441621.6:c.*357T>A	ENSP00000408819.2:n.*357T>A
ENST00000446616.1:c.*816T>A	ENSP00000410801.1:n.*816T>A
ENST00000543200.5:c.1130T>A	ENSP00000438380.1:p.Leu377Gln
NM_000751.2:c.1175T>A	NP_000742.1:p.Leu392Gln
NM_001256657.1:c.1130T>A	NP_001243586.1:p.Leu377Gln
NM_001311195.1:c.593T>A	NP_001298124.1:p.Leu198Gln
NM_001311196.1:c.872T>A	NP_001298125.1:p.Leu291Gln
NR_046333.1:c.-4294966376T>A
NR_046334.1:c.-4294966097T>A
XM_011510524.1:c.794T>A	XP_011508826.1:p.Leu265Gln
XM_011510524.2:c.794T>A	XP_011508826.1:p.Leu265Gln
NM_000751.3:c.1175T>A MANE Select	NP_000742.1:p.Leu392Gln
NM_001311195.2:c.593T>A	NP_001298124.1:p.Leu198Gln
NM_001311196.2:c.872T>A	NP_001298125.1:p.Leu291Gln
NM_001256657.2:c.1130T>A	NP_001243586.1:p.Leu377Gln