Canonical Allele Identifier: CA388638817

Gene: ZIC2

Linked Data

• MyVariant Identifiers: chr13:g.100637225T>A (hg19) ; chr13:g.99984971T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.99984971T>A , CM000675.2:g.99984971T>A	GRCh38
NC_000013.10:g.100637225T>A , CM000675.1:g.100637225T>A	GRCh37
NC_000013.9:g.99435226T>A	NCBI36
NG_007085.2:g.7907T>A
NG_007085.3:g.8216T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376335.8:c.1101T>A MANE Select	ENSP00000365514.3:p.Phe367Leu
ENST00000376335.7:c.1101T>A	ENSP00000365514.3:p.Phe367Leu
ENST00000468291.1:n.75T>A
ENST00000477213.1:n.183T>A
ENST00000490085.5:n.147T>A
ENST00000620342.1:c.1098T>A	ENSP00000481510.1:p.Phe366Leu
NM_007129.3:c.1101T>A	NP_009060.2:p.Phe367Leu
XM_011521110.1:c.1101T>A	XP_011519412.1:p.Phe367Leu
NM_007129.4:c.1101T>A	NP_009060.2:p.Phe367Leu
NM_007129.5:c.1101T>A MANE Select	NP_009060.2:p.Phe367Leu