Canonical Allele Identifier: CA431809029

Gene: CHRND

Linked Data

• dbSNP Id: rs1357115084
• gnomAD v2: 2-233399851-C-T
• MyVariant Identifiers: chr2:g.233399851C>T (hg19) ; chr2:g.232535141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535141C>T , CM000664.2:g.232535141C>T	GRCh38
NC_000002.11:g.233399851C>T , CM000664.1:g.233399851C>T	GRCh37
NC_000002.10:g.233108095C>T	NCBI36
NG_008028.1:g.13930C>T
NG_012954.1:g.415C>T
NG_012954.2:g.450C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1383C>T MANE Select	ENSP00000258385.3:p.Ser461=
ENST00000258385.7:c.1383C>T	ENSP00000258385.3:p.Ser461=
ENST00000441621.6:c.*565C>T	ENSP00000408819.2:n.*565C>T
ENST00000446616.1:c.*1024C>T	ENSP00000410801.1:n.*1024C>T
ENST00000543200.5:c.1338C>T	ENSP00000438380.1:p.Ser446=
NM_000751.2:c.1383C>T	NP_000742.1:p.Ser461=
NM_001256657.1:c.1338C>T	NP_001243586.1:p.Ser446=
NM_001311195.1:c.801C>T	NP_001298124.1:p.Ser267=
NM_001311196.1:c.1080C>T	NP_001298125.1:p.Ser360=
NR_046333.1:c.-4294966168C>T
NR_046334.1:c.-4294965889C>T
XM_011510524.1:c.1002C>T	XP_011508826.1:p.Ser334=
XM_011510524.2:c.1002C>T	XP_011508826.1:p.Ser334=
NM_000751.3:c.1383C>T MANE Select	NP_000742.1:p.Ser461=
NM_001311195.2:c.801C>T	NP_001298124.1:p.Ser267=
NM_001311196.2:c.1080C>T	NP_001298125.1:p.Ser360=
NM_001256657.2:c.1338C>T	NP_001243586.1:p.Ser446=