Canonical Allele Identifier: CA410485612

Gene: ITGB2

Linked Data

• dbSNP Id: rs2146508135
• MyVariant Identifiers: chr21:g.46313321G>C (hg19) ; chr21:g.44893406G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44893406G>C , CM000683.2:g.44893406G>C	GRCh38
NC_000021.8:g.46313321G>C , CM000683.1:g.46313321G>C	GRCh37
NC_000021.7:g.45137749G>C	NCBI36
NG_007270.2:g.40433C>G , LRG_76:g.40433C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1294C>G	ENSP00000303242.6:p.Pro432Ala
ENST00000652462.1:c.1222C>G MANE Select	ENSP00000498780.1:p.Pro408Ala
ENST00000302347.9:c.1222C>G	ENSP00000303242.5:p.Pro408Ala
ENST00000355153.8:c.1222C>G	ENSP00000347279.4:p.Pro408Ala
ENST00000397850.6:c.1222C>G	ENSP00000380948.2:p.Pro408Ala
ENST00000397852.5:c.1222C>G	ENSP00000380950.1:p.Pro408Ala
ENST00000397854.7:c.1051C>G	ENSP00000380952.3:p.Pro351Ala
ENST00000397857.5:c.1222C>G	ENSP00000380955.1:p.Pro408Ala
ENST00000475170.5:n.622C>G
ENST00000498666.5:n.2791C>G
ENST00000523323.5:c.*1049C>G	ENSP00000427732.1:n.*1049C>G
ENST00000610622.4:c.1051C>G	ENSP00000480700.1:p.Pro351Ala
NM_000211.4:c.1222C>G	NP_000202.3:p.Pro408Ala
NM_001127491.2:c.1222C>G	NP_001120963.2:p.Pro408Ala
NM_001303238.1:c.1015C>G	NP_001290167.1:p.Pro339Ala
XM_006724001.1:c.1015C>G	XP_006724064.1:p.Pro339Ala
XM_006724001.2:c.1015C>G	XP_006724064.1:p.Pro339Ala
NM_000211.5:c.1222C>G MANE Select	NP_000202.3:p.Pro408Ala
NM_001127491.3:c.1222C>G	NP_001120963.2:p.Pro408Ala
NM_001303238.2:c.1015C>G	NP_001290167.1:p.Pro339Ala