Canonical Allele Identifier: CA381283279

Gene: ZNRD2

Linked Data

• ClinVar Variation Id: 2536492
• ClinVar RCV Id: RCV004309015
• MyVariant Identifiers: chr11:g.65338967G>T (hg19) ; chr11:g.65571496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65571496G>T , CM000673.2:g.65571496G>T	GRCh38
NC_000011.9:g.65338967G>T , CM000673.1:g.65338967G>T	GRCh37
NC_000011.8:g.65095543G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309328.8:c.362G>T MANE Select	ENSP00000312318.3:p.Arg121Leu
ENST00000309328.7:c.362G>T	ENSP00000312318.3:p.Arg121Leu
ENST00000526433.1:c.159+526G>T
ENST00000526877.1:c.*100G>T	ENSP00000431666.1:n.*100G>T
ENST00000527413.1:n.260G>T
ENST00000527920.5:c.145+526G>T	ENSP00000432938.1:n.145+526G>T
ENST00000531405.5:c.251G>T	ENSP00000434381.1:p.Arg84Leu
ENST00000533115.5:c.344G>T	ENSP00000435432.1:p.Arg115Leu
NM_001303024.1:c.251G>T	NP_001289953.1:p.Arg84Leu
NM_006396.2:c.362G>T	NP_006387.1:p.Arg121Leu
NM_006396.3:c.362G>T MANE Select	NP_006387.1:p.Arg121Leu
NM_001303024.2:c.251G>T	NP_001289953.1:p.Arg84Leu