Canonical Allele Identifier: CA537248853
Gene: CYTIP HGNC NCBI

Linked Data

dbSNP Id: rs1435062234
gnomAD v2: 2-158278270-A-G
gnomAD v3: 2-157421758-A-G
gnomAD v4: 2-157421758-A-G
MyVariant Identifiers: chr2:g.158278270A>G (hg19) chr2:g.157421758A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.157421758A>G , CM000664.2:g.157421758A>G GRCh38
NC_000002.11:g.158278270A>G , CM000664.1:g.158278270A>G GRCh37
NC_000002.10:g.157986516A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264192.8:c.547-3169T>C MANE Select ENSP00000264192.3:n.547-3169T>C
ENST00000264192.7:c.547-3169T>C ENSP00000264192.3:n.547-3169T>C
ENST00000418920.5:c.229-3169T>C ENSP00000394308.1:n.229-3169T>C
ENST00000457793.6:c.*442-3169T>C ENSP00000407205.2:n.*442-3169T>C
NM_004288.4:c.547-3169T>C NP_004279.3:n.547-3169T>C
XM_017005386.2:c.229-3169T>C XP_016860875.1:n.229-3169T>C
NM_004288.5:c.547-3169T>C MANE Select NP_004279.3:n.547-3169T>C
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