Canonical Allele Identifier: CA381515218

Gene: CABP2

Linked Data

• gnomAD v4: 11-67521023-A-G
• MyVariant Identifiers: chr11:g.67288494A>G (hg19) ; chr11:g.67521023A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521023A>G , CM000673.2:g.67521023A>G	GRCh38
NC_000011.9:g.67288494A>G , CM000673.1:g.67288494A>G	GRCh37
NC_000011.8:g.67045070A>G	NCBI36
NG_032982.1:g.7406T>C

Transcript Alleles

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