Canonical Allele Identifier: CA1108460817

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs918437774
• gnomAD v3: 7-147918570-G-T
• gnomAD v4: 7-147918570-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147918570G>T , CM000669.2:g.147918570G>T	GRCh38
NC_000007.13:g.147615662G>T , CM000669.1:g.147615662G>T	GRCh37
NC_000007.12:g.147246595G>T	NCBI36
NG_007092.2:g.1807210G>T
NG_007092.3:g.1807570G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.2255+14849G>T MANE Select	ENSP00000354778.3:n.2255+14849G>T
ENST00000636870.1:n.2117+14849G>T
ENST00000637825.1:n.1738+14849G>T
ENST00000361727.7:c.2255+14849G>T	ENSP00000354778.3:n.2255+14849G>T
ENST00000455301.2:n.190+14849G>T
ENST00000627772.2:n.428+14849G>T
NM_014141.5:c.2255+14849G>T	NP_054860.1:n.2255+14849G>T
XM_006715919.1:c.743+14849G>T	XP_006715982.1:n.743+14849G>T
NM_014141.6:c.2255+14849G>T MANE Select	NP_054860.1:n.2255+14849G>T