Canonical Allele Identifier: CA578592071

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1210746167
• gnomAD v2: 7-146475144-A-T
• gnomAD v3: 7-146778052-A-T
• gnomAD v4: 7-146778052-A-T
• MyVariant Identifiers: chr7:g.146475144A>T (hg19) ; chr7:g.146778052A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778052A>T , CM000669.2:g.146778052A>T	GRCh38
NC_000007.13:g.146475144A>T , CM000669.1:g.146475144A>T	GRCh37
NC_000007.12:g.146106077A>T	NCBI36
NG_007092.2:g.666692A>T
NG_007092.3:g.667052A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+3671A>T MANE Select	ENSP00000354778.3:n.208+3671A>T
ENST00000636277.1:n.75+3671A>T
ENST00000636561.1:n.111+3671A>T
ENST00000636600.1:n.58+3671A>T
ENST00000637150.1:n.137+3671A>T
ENST00000637694.1:n.111+3671A>T
ENST00000638117.1:n.111+3671A>T
ENST00000361727.7:c.208+3671A>T	ENSP00000354778.3:n.208+3671A>T
ENST00000625365.2:c.208+3671A>T	ENSP00000485955.1:n.208+3671A>T
NM_014141.5:c.208+3671A>T	NP_054860.1:n.208+3671A>T
XM_017011950.2:c.208+3671A>T	XP_016867439.1:n.208+3671A>T
NM_014141.6:c.208+3671A>T MANE Select	NP_054860.1:n.208+3671A>T