Canonical Allele Identifier: CA381515710

Gene: CABP2

Linked Data

• gnomAD v4: 11-67521085-T-C
• MyVariant Identifiers: chr11:g.67288556T>C (hg19) ; chr11:g.67521085T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521085T>C , CM000673.2:g.67521085T>C	GRCh38
NC_000011.9:g.67288556T>C , CM000673.1:g.67288556T>C	GRCh37
NC_000011.8:g.67045132T>C	NCBI36
NG_032982.1:g.7344A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.319A>G MANE Select	ENSP00000294288.4:p.Met107Val
ENST00000545205.2:c.*104A>G	ENSP00000446180.1:n.*104A>G
ENST00000636477.1:c.271A>G	ENSP00000490746.1:p.Met91Val
ENST00000294288.4:c.319A>G	ENSP00000294288.4:p.Met107Val
ENST00000353903.9:c.148A>G	ENSP00000312037.4:p.Met50Val
ENST00000545205.1:c.*104A>G	ENSP00000446180.1:n.*104A>G
NM_016366.2:c.319A>G	NP_057450.2:p.Met107Val
XM_005274046.1:c.337A>G	XP_005274103.1:p.Met113Val
NM_001318496.1:c.337A>G	NP_001305425.1:p.Met113Val
NM_001318496.2:c.337A>G	NP_001305425.1:p.Met113Val
NM_016366.3:c.319A>G MANE Select	NP_057450.2:p.Met107Val