Canonical Allele Identifier: CA1108379644

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1802424220
• gnomAD v3: 7-146778243-T-G
• gnomAD v4: 7-146778243-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778243T>G , CM000669.2:g.146778243T>G	GRCh38
NC_000007.13:g.146475335T>G , CM000669.1:g.146475335T>G	GRCh37
NC_000007.12:g.146106268T>G	NCBI36
NG_007092.2:g.666883T>G
NG_007092.3:g.667243T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+3862T>G MANE Select	ENSP00000354778.3:n.208+3862T>G
ENST00000636277.1:n.75+3862T>G
ENST00000636561.1:n.111+3862T>G
ENST00000636600.1:n.58+3862T>G
ENST00000637150.1:n.137+3862T>G
ENST00000637694.1:n.111+3862T>G
ENST00000638117.1:n.111+3862T>G
ENST00000361727.7:c.208+3862T>G	ENSP00000354778.3:n.208+3862T>G
ENST00000625365.2:c.208+3862T>G	ENSP00000485955.1:n.208+3862T>G
NM_014141.5:c.208+3862T>G	NP_054860.1:n.208+3862T>G
XM_017011950.2:c.208+3862T>G	XP_016867439.1:n.208+3862T>G
NM_014141.6:c.208+3862T>G MANE Select	NP_054860.1:n.208+3862T>G