Canonical Allele Identifier: CA431952513

Gene: CHRND

Linked Data

• dbSNP Id: rs143246852
• gnomAD v2: 2-233398718-G-T
• gnomAD v3: 2-232534008-G-T
• gnomAD v4: 2-232534008-G-T
• MyVariant Identifiers: chr2:g.233398718G>T (hg19) ; chr2:g.232534008G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534008G>T , CM000664.2:g.232534008G>T	GRCh38
NC_000002.11:g.233398718G>T , CM000664.1:g.233398718G>T	GRCh37
NC_000002.10:g.233106962G>T	NCBI36
NG_008028.1:g.12797G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1125G>T MANE Select	ENSP00000258385.3:p.Val375=
ENST00000258385.7:c.1125G>T	ENSP00000258385.3:p.Val375=
ENST00000441621.6:c.*307G>T	ENSP00000408819.2:n.*307G>T
ENST00000446616.1:c.*766G>T	ENSP00000410801.1:n.*766G>T
ENST00000543200.5:c.1080G>T	ENSP00000438380.1:p.Val360=
NM_000751.2:c.1125G>T	NP_000742.1:p.Val375=
NM_001256657.1:c.1080G>T	NP_001243586.1:p.Val360=
NM_001311195.1:c.543G>T	NP_001298124.1:p.Val181=
NM_001311196.1:c.822G>T	NP_001298125.1:p.Val274=
NR_046333.1:c.-4294966426G>T
NR_046334.1:c.-4294966147G>T
XM_011510524.1:c.744G>T	XP_011508826.1:p.Val248=
XM_011510524.2:c.744G>T	XP_011508826.1:p.Val248=
NM_000751.3:c.1125G>T MANE Select	NP_000742.1:p.Val375=
NM_001311195.2:c.543G>T	NP_001298124.1:p.Val181=
NM_001311196.2:c.822G>T	NP_001298125.1:p.Val274=
NM_001256657.2:c.1080G>T	NP_001243586.1:p.Val360=