Canonical Allele Identifier: CA2685450029
Gene: CNTNAP2 HGNC NCBI

Linked Data

gnomAD v4: 7-147485846-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.147485846T>G , CM000669.2:g.147485846T>G GRCh38
NC_000007.13:g.147182938T>G , CM000669.1:g.147182938T>G GRCh37
NC_000007.12:g.146813871T>G NCBI36
NG_007092.2:g.1374486T>G
NG_007092.3:g.1374846T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361727.8:c.1671-89T>G MANE Select ENSP00000354778.3:n.1671-89T>G
ENST00000636870.1:n.1533-89T>G
ENST00000637694.1:n.1574-89T>G
ENST00000637825.1:n.1154-89T>G
ENST00000638117.1:n.1574-89T>G
ENST00000361727.7:c.1671-89T>G ENSP00000354778.3:n.1671-89T>G
NM_014141.5:c.1671-89T>G NP_054860.1:n.1671-89T>G
XM_006715919.1:c.159-89T>G XP_006715982.1:n.159-89T>G
XM_017011950.2:c.1671-89T>G XP_016867439.1:n.1671-89T>G
NM_014141.6:c.1671-89T>G MANE Select NP_054860.1:n.1671-89T>G
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