Canonical Allele Identifier: CA59243170

Gene: CYTIP

Linked Data

• dbSNP Id: rs780519231
• gnomAD v3: 2-157421708-A-G
• gnomAD v4: 2-157421708-A-G
• MyVariant Identifiers: chr2:g.158278220A>G (hg19) ; chr2:g.157421708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.157421708A>G , CM000664.2:g.157421708A>G	GRCh38
NC_000002.11:g.158278220A>G , CM000664.1:g.158278220A>G	GRCh37
NC_000002.10:g.157986466A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264192.8:c.547-3119T>C MANE Select	ENSP00000264192.3:n.547-3119T>C
ENST00000264192.7:c.547-3119T>C	ENSP00000264192.3:n.547-3119T>C
ENST00000418920.5:c.229-3119T>C	ENSP00000394308.1:n.229-3119T>C
ENST00000457793.6:c.*442-3119T>C	ENSP00000407205.2:n.*442-3119T>C
NM_004288.4:c.547-3119T>C	NP_004279.3:n.547-3119T>C
XM_017005386.2:c.229-3119T>C	XP_016860875.1:n.229-3119T>C
NM_004288.5:c.547-3119T>C MANE Select	NP_004279.3:n.547-3119T>C