Canonical Allele Identifier: CA6142484

Gene: CABP2

Linked Data

• ClinVar Variation Id: 517568
• ClinVar RCV Id: RCV003767749
• dbSNP Id: rs147530804
• ExAC: 11:67288485 G / A
• gnomAD v2: 11-67288485-G-A
• gnomAD v3: 11-67521014-G-A
• gnomAD v4: 11-67521014-G-A
• MyVariant Identifiers: chr11:g.67288485G>A (hg19) ; chr11:g.67521014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521014G>A , CM000673.2:g.67521014G>A	GRCh38
NC_000011.9:g.67288485G>A , CM000673.1:g.67288485G>A	GRCh37
NC_000011.8:g.67045061G>A	NCBI36
NG_032982.1:g.7415C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000294288.5:c.379+11C>T MANE Select	ENSP00000294288.4:n.379+11C>T
ENST00000545205.2:c.*164+11C>T	ENSP00000446180.1:n.*164+11C>T
ENST00000636477.1:c.331+11C>T	ENSP00000490746.1:n.331+11C>T
ENST00000294288.4:c.379+11C>T	ENSP00000294288.4:n.379+11C>T
ENST00000353903.9:c.208+11C>T	ENSP00000312037.4:n.208+11C>T
ENST00000545205.1:c.*164+11C>T	ENSP00000446180.1:n.*164+11C>T
NM_016366.2:c.379+11C>T	NP_057450.2:n.379+11C>T
XM_005274046.1:c.397+11C>T	XP_005274103.1:n.397+11C>T
NM_001318496.1:c.397+11C>T	NP_001305425.1:n.397+11C>T
NM_001318496.2:c.397+11C>T	NP_001305425.1:n.397+11C>T
NM_016366.3:c.379+11C>T MANE Select	NP_057450.2:n.379+11C>T