Canonical Allele Identifier: CA351005131

Gene: CHRND

Linked Data

• dbSNP Id: rs753512039
• MyVariant Identifiers: chr2:g.233398744T>C (hg19) ; chr2:g.232534034T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534034T>C , CM000664.2:g.232534034T>C	GRCh38
NC_000002.11:g.233398744T>C , CM000664.1:g.233398744T>C	GRCh37
NC_000002.10:g.233106988T>C	NCBI36
NG_008028.1:g.12823T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1151T>C MANE Select	ENSP00000258385.3:p.Ile384Thr
ENST00000258385.7:c.1151T>C	ENSP00000258385.3:p.Ile384Thr
ENST00000441621.6:c.*333T>C	ENSP00000408819.2:n.*333T>C
ENST00000446616.1:c.*792T>C	ENSP00000410801.1:n.*792T>C
ENST00000543200.5:c.1106T>C	ENSP00000438380.1:p.Ile369Thr
NM_000751.2:c.1151T>C	NP_000742.1:p.Ile384Thr
NM_001256657.1:c.1106T>C	NP_001243586.1:p.Ile369Thr
NM_001311195.1:c.569T>C	NP_001298124.1:p.Ile190Thr
NM_001311196.1:c.848T>C	NP_001298125.1:p.Ile283Thr
NR_046333.1:c.-4294966400T>C
NR_046334.1:c.-4294966121T>C
XM_011510524.1:c.770T>C	XP_011508826.1:p.Ile257Thr
XM_011510524.2:c.770T>C	XP_011508826.1:p.Ile257Thr
NM_000751.3:c.1151T>C MANE Select	NP_000742.1:p.Ile384Thr
NM_001311195.2:c.569T>C	NP_001298124.1:p.Ile190Thr
NM_001311196.2:c.848T>C	NP_001298125.1:p.Ile283Thr
NM_001256657.2:c.1106T>C	NP_001243586.1:p.Ile369Thr