Canonical Allele Identifier: CA2685450032
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v4: 7-147485851-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147485851T>C , CM000669.2:g.147485851T>C GRCh38
NC_000007.13:g.147182943T>C , CM000669.1:g.147182943T>C GRCh37
NC_000007.12:g.146813876T>C NCBI36
NG_007092.2:g.1374491T>C
NG_007092.3:g.1374851T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1671-84T>C MANE Select ENSP00000354778.3:n.1671-84T>C
ENST00000636870.1:n.1533-84T>C
ENST00000637694.1:n.1574-84T>C
ENST00000637825.1:n.1154-84T>C
ENST00000638117.1:n.1574-84T>C
ENST00000361727.7:c.1671-84T>C ENSP00000354778.3:n.1671-84T>C
NM_014141.5:c.1671-84T>C NP_054860.1:n.1671-84T>C
XM_006715919.1:c.159-84T>C XP_006715982.1:n.159-84T>C
XM_017011950.2:c.1671-84T>C XP_016867439.1:n.1671-84T>C
NM_014141.6:c.1671-84T>C MANE Select NP_054860.1:n.1671-84T>C
Search 100 bp 5'
Search 100 bp 3'