Canonical Allele Identifier: CA431952502

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398709G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232533999G>T , CM000664.2:g.232533999G>T	GRCh38
NC_000002.11:g.233398709G>T , CM000664.1:g.233398709G>T	GRCh37
NC_000002.10:g.233106953G>T	NCBI36
NG_008028.1:g.12788G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1116G>T MANE Select	ENSP00000258385.3:p.Gly372=
ENST00000258385.7:c.1116G>T	ENSP00000258385.3:p.Gly372=
ENST00000441621.6:c.*298G>T	ENSP00000408819.2:n.*298G>T
ENST00000446616.1:c.*757G>T	ENSP00000410801.1:n.*757G>T
ENST00000543200.5:c.1071G>T	ENSP00000438380.1:p.Gly357=
NM_000751.2:c.1116G>T	NP_000742.1:p.Gly372=
NM_001256657.1:c.1071G>T	NP_001243586.1:p.Gly357=
NM_001311195.1:c.534G>T	NP_001298124.1:p.Gly178=
NM_001311196.1:c.813G>T	NP_001298125.1:p.Gly271=
NR_046333.1:c.-4294966435G>T
NR_046334.1:c.-4294966156G>T
XM_011510524.1:c.735G>T	XP_011508826.1:p.Gly245=
XM_011510524.2:c.735G>T	XP_011508826.1:p.Gly245=
NM_000751.3:c.1116G>T MANE Select	NP_000742.1:p.Gly372=
NM_001311195.2:c.534G>T	NP_001298124.1:p.Gly178=
NM_001311196.2:c.813G>T	NP_001298125.1:p.Gly271=
NM_001256657.2:c.1071G>T	NP_001243586.1:p.Gly357=