Canonical Allele Identifier: CA381515718

Gene: CABP2

Linked Data

• MyVariant Identifiers: chr11:g.67288558C>A (hg19) ; chr11:g.67521087C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521087C>A , CM000673.2:g.67521087C>A	GRCh38
NC_000011.9:g.67288558C>A , CM000673.1:g.67288558C>A	GRCh37
NC_000011.8:g.67045134C>A	NCBI36
NG_032982.1:g.7342G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.317G>T MANE Select	ENSP00000294288.4:p.Cys106Phe
ENST00000545205.2:c.*102G>T	ENSP00000446180.1:n.*102G>T
ENST00000636477.1:c.269G>T	ENSP00000490746.1:p.Cys90Phe
ENST00000294288.4:c.317G>T	ENSP00000294288.4:p.Cys106Phe
ENST00000353903.9:c.146G>T	ENSP00000312037.4:p.Cys49Phe
ENST00000545205.1:c.*102G>T	ENSP00000446180.1:n.*102G>T
NM_016366.2:c.317G>T	NP_057450.2:p.Cys106Phe
XM_005274046.1:c.335G>T	XP_005274103.1:p.Cys112Phe
NM_001318496.1:c.335G>T	NP_001305425.1:p.Cys112Phe
NM_001318496.2:c.335G>T	NP_001305425.1:p.Cys112Phe
NM_016366.3:c.317G>T MANE Select	NP_057450.2:p.Cys106Phe