Canonical Allele Identifier: CA381515445

Gene: CABP2

Linked Data

• MyVariant Identifiers: chr11:g.67288524C>A (hg19) ; chr11:g.67521053C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521053C>A , CM000673.2:g.67521053C>A	GRCh38
NC_000011.9:g.67288524C>A , CM000673.1:g.67288524C>A	GRCh37
NC_000011.8:g.67045100C>A	NCBI36
NG_032982.1:g.7376G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.351G>T MANE Select	ENSP00000294288.4:p.Met117Ile
ENST00000545205.2:c.*136G>T	ENSP00000446180.1:n.*136G>T
ENST00000636477.1:c.303G>T	ENSP00000490746.1:p.Met101Ile
ENST00000294288.4:c.351G>T	ENSP00000294288.4:p.Met117Ile
ENST00000353903.9:c.180G>T	ENSP00000312037.4:p.Met60Ile
ENST00000545205.1:c.*136G>T	ENSP00000446180.1:n.*136G>T
NM_016366.2:c.351G>T	NP_057450.2:p.Met117Ile
XM_005274046.1:c.369G>T	XP_005274103.1:p.Met123Ile
NM_001318496.1:c.369G>T	NP_001305425.1:p.Met123Ile
NM_001318496.2:c.369G>T	NP_001305425.1:p.Met123Ile
NM_016366.3:c.351G>T MANE Select	NP_057450.2:p.Met117Ile