Canonical Allele Identifier: CA369924596
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v4: 7-147132314-G-C
MyVariant Identifiers: chr7:g.146829406G>C (hg19) chr7:g.147132314G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147132314G>C , CM000669.2:g.147132314G>C GRCh38
NC_000007.13:g.146829406G>C , CM000669.1:g.146829406G>C GRCh37
NC_000007.12:g.146460339G>C NCBI36
NG_007092.2:g.1020954G>C
NG_007092.3:g.1021314G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1153G>C MANE Select ENSP00000354778.3:p.Glu385Gln
ENST00000636561.1:n.1056G>C
ENST00000636870.1:n.1015G>C
ENST00000637150.1:n.1082G>C
ENST00000637694.1:n.1056G>C
ENST00000637825.1:n.636G>C
ENST00000638117.1:n.1056G>C
ENST00000361727.7:c.1153G>C ENSP00000354778.3:p.Glu385Gln
NM_014141.5:c.1153G>C NP_054860.1:p.Glu385Gln
XM_017011950.2:c.1153G>C XP_016867439.1:p.Glu385Gln
NM_014141.6:c.1153G>C MANE Select NP_054860.1:p.Glu385Gln
Search 100 bp 5'
Search 100 bp 3'