Canonical Allele Identifier: CA351005128

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398743A>T (hg19) ; chr2:g.232534033A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534033A>T , CM000664.2:g.232534033A>T	GRCh38
NC_000002.11:g.233398743A>T , CM000664.1:g.233398743A>T	GRCh37
NC_000002.10:g.233106987A>T	NCBI36
NG_008028.1:g.12822A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1150A>T MANE Select	ENSP00000258385.3:p.Ile384Phe
ENST00000258385.7:c.1150A>T	ENSP00000258385.3:p.Ile384Phe
ENST00000441621.6:c.*332A>T	ENSP00000408819.2:n.*332A>T
ENST00000446616.1:c.*791A>T	ENSP00000410801.1:n.*791A>T
ENST00000543200.5:c.1105A>T	ENSP00000438380.1:p.Ile369Phe
NM_000751.2:c.1150A>T	NP_000742.1:p.Ile384Phe
NM_001256657.1:c.1105A>T	NP_001243586.1:p.Ile369Phe
NM_001311195.1:c.568A>T	NP_001298124.1:p.Ile190Phe
NM_001311196.1:c.847A>T	NP_001298125.1:p.Ile283Phe
NR_046333.1:c.-4294966401A>T
NR_046334.1:c.-4294966122A>T
XM_011510524.1:c.769A>T	XP_011508826.1:p.Ile257Phe
XM_011510524.2:c.769A>T	XP_011508826.1:p.Ile257Phe
NM_000751.3:c.1150A>T MANE Select	NP_000742.1:p.Ile384Phe
NM_001311195.2:c.568A>T	NP_001298124.1:p.Ile190Phe
NM_001311196.2:c.847A>T	NP_001298125.1:p.Ile283Phe
NM_001256657.2:c.1105A>T	NP_001243586.1:p.Ile369Phe