Canonical Allele Identifier: CA351005125

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398741A>T (hg19) ; chr2:g.232534031A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534031A>T , CM000664.2:g.232534031A>T	GRCh38
NC_000002.11:g.233398741A>T , CM000664.1:g.233398741A>T	GRCh37
NC_000002.10:g.233106985A>T	NCBI36
NG_008028.1:g.12820A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1148A>T MANE Select	ENSP00000258385.3:p.Tyr383Phe
ENST00000258385.7:c.1148A>T	ENSP00000258385.3:p.Tyr383Phe
ENST00000441621.6:c.*330A>T	ENSP00000408819.2:n.*330A>T
ENST00000446616.1:c.*789A>T	ENSP00000410801.1:n.*789A>T
ENST00000543200.5:c.1103A>T	ENSP00000438380.1:p.Tyr368Phe
NM_000751.2:c.1148A>T	NP_000742.1:p.Tyr383Phe
NM_001256657.1:c.1103A>T	NP_001243586.1:p.Tyr368Phe
NM_001311195.1:c.566A>T	NP_001298124.1:p.Tyr189Phe
NM_001311196.1:c.845A>T	NP_001298125.1:p.Tyr282Phe
NR_046333.1:c.-4294966403A>T
NR_046334.1:c.-4294966124A>T
XM_011510524.1:c.767A>T	XP_011508826.1:p.Tyr256Phe
XM_011510524.2:c.767A>T	XP_011508826.1:p.Tyr256Phe
NM_000751.3:c.1148A>T MANE Select	NP_000742.1:p.Tyr383Phe
NM_001311195.2:c.566A>T	NP_001298124.1:p.Tyr189Phe
NM_001311196.2:c.845A>T	NP_001298125.1:p.Tyr282Phe
NM_001256657.2:c.1103A>T	NP_001243586.1:p.Tyr368Phe