Canonical Allele Identifier: CA381515323

Gene: CABP2

Linked Data

• MyVariant Identifiers: chr11:g.67288510A>C (hg19) ; chr11:g.67521039A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521039A>C , CM000673.2:g.67521039A>C	GRCh38
NC_000011.9:g.67288510A>C , CM000673.1:g.67288510A>C	GRCh37
NC_000011.8:g.67045086A>C	NCBI36
NG_032982.1:g.7390T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.365T>G MANE Select	ENSP00000294288.4:p.Ile122Ser
ENST00000545205.2:c.*150T>G	ENSP00000446180.1:n.*150T>G
ENST00000636477.1:c.317T>G	ENSP00000490746.1:p.Ile106Ser
ENST00000294288.4:c.365T>G	ENSP00000294288.4:p.Ile122Ser
ENST00000353903.9:c.194T>G	ENSP00000312037.4:p.Ile65Ser
ENST00000545205.1:c.*150T>G	ENSP00000446180.1:n.*150T>G
NM_016366.2:c.365T>G	NP_057450.2:p.Ile122Ser
XM_005274046.1:c.383T>G	XP_005274103.1:p.Ile128Ser
NM_001318496.1:c.383T>G	NP_001305425.1:p.Ile128Ser
NM_001318496.2:c.383T>G	NP_001305425.1:p.Ile128Ser
NM_016366.3:c.365T>G MANE Select	NP_057450.2:p.Ile122Ser