Canonical Allele Identifier: CA2605368564
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v3: 7-146792308-T-G
gnomAD v4: 7-146792308-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.146792308T>G , CM000669.2:g.146792308T>G GRCh38
NC_000007.13:g.146489400T>G , CM000669.1:g.146489400T>G GRCh37
NC_000007.12:g.146120333T>G NCBI36
NG_007092.2:g.680948T>G
NG_007092.3:g.681308T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361727.8:c.208+17927T>G MANE Select ENSP00000354778.3:n.208+17927T>G
ENST00000636561.1:n.111+17927T>G
ENST00000637150.1:n.137+17927T>G
ENST00000637694.1:n.111+17927T>G
ENST00000638117.1:n.111+17927T>G
ENST00000361727.7:c.208+17927T>G ENSP00000354778.3:n.208+17927T>G
ENST00000625365.2:c.208+17927T>G ENSP00000485955.1:n.208+17927T>G
NM_014141.5:c.208+17927T>G NP_054860.1:n.208+17927T>G
XM_017011950.2:c.208+17927T>G XP_016867439.1:n.208+17927T>G
NM_014141.6:c.208+17927T>G MANE Select NP_054860.1:n.208+17927T>G
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