Canonical Allele Identifier: CA431952395

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534231-C-T
• MyVariant Identifiers: chr2:g.233398941C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534231C>T , CM000664.2:g.232534231C>T	GRCh38
NC_000002.11:g.233398941C>T , CM000664.1:g.233398941C>T	GRCh37
NC_000002.10:g.233107185C>T	NCBI36
NG_008028.1:g.13020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1260C>T MANE Select	ENSP00000258385.3:p.Pro420=
ENST00000258385.7:c.1260C>T	ENSP00000258385.3:p.Pro420=
ENST00000441621.6:c.*442C>T	ENSP00000408819.2:n.*442C>T
ENST00000446616.1:c.*901C>T	ENSP00000410801.1:n.*901C>T
ENST00000543200.5:c.1215C>T	ENSP00000438380.1:p.Pro405=
NM_000751.2:c.1260C>T	NP_000742.1:p.Pro420=
NM_001256657.1:c.1215C>T	NP_001243586.1:p.Pro405=
NM_001311195.1:c.678C>T	NP_001298124.1:p.Pro226=
NM_001311196.1:c.957C>T	NP_001298125.1:p.Pro319=
NR_046333.1:c.-4294966291C>T
NR_046334.1:c.-4294966012C>T
XM_011510524.1:c.879C>T	XP_011508826.1:p.Pro293=
XM_011510524.2:c.879C>T	XP_011508826.1:p.Pro293=
NM_000751.3:c.1260C>T MANE Select	NP_000742.1:p.Pro420=
NM_001311195.2:c.678C>T	NP_001298124.1:p.Pro226=
NM_001311196.2:c.957C>T	NP_001298125.1:p.Pro319=
NM_001256657.2:c.1215C>T	NP_001243586.1:p.Pro405=