Canonical Allele Identifier: CA2168339

Gene: CHRND

Linked Data

• dbSNP Id: rs752926048
• ExAC: 2:233399102 T / G
• gnomAD v2: 2-233399102-T-G
• gnomAD v4: 2-232534392-T-G
• MyVariant Identifiers: chr2:g.233399102T>G (hg19) ; chr2:g.232534392T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534392T>G , CM000664.2:g.232534392T>G	GRCh38
NC_000002.11:g.233399102T>G , CM000664.1:g.233399102T>G	GRCh37
NC_000002.10:g.233107346T>G	NCBI36
NG_008028.1:g.13181T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1371+50T>G MANE Select	ENSP00000258385.3:n.1371+50T>G
ENST00000258385.7:c.1371+50T>G	ENSP00000258385.3:n.1371+50T>G
ENST00000441621.6:c.*553+50T>G	ENSP00000408819.2:n.*553+50T>G
ENST00000446616.1:c.*1012+50T>G	ENSP00000410801.1:n.*1012+50T>G
ENST00000543200.5:c.1326+50T>G	ENSP00000438380.1:n.1326+50T>G
NM_000751.2:c.1371+50T>G	NP_000742.1:n.1371+50T>G
NM_001256657.1:c.1326+50T>G	NP_001243586.1:n.1326+50T>G
NM_001311195.1:c.789+50T>G	NP_001298124.1:n.789+50T>G
NM_001311196.1:c.1068+50T>G	NP_001298125.1:n.1068+50T>G
NR_046333.1:c.-4294966180+50T>G
NR_046334.1:c.-4294965901+50T>G
XM_011510524.1:c.990+50T>G	XP_011508826.1:n.990+50T>G
XM_011510524.2:c.990+50T>G	XP_011508826.1:n.990+50T>G
NM_000751.3:c.1371+50T>G MANE Select	NP_000742.1:n.1371+50T>G
NM_001311195.2:c.789+50T>G	NP_001298124.1:n.789+50T>G
NM_001311196.2:c.1068+50T>G	NP_001298125.1:n.1068+50T>G
NM_001256657.2:c.1326+50T>G	NP_001243586.1:n.1326+50T>G