Canonical Allele Identifier: CA410485637

Gene: ITGB2

Linked Data

• MyVariant Identifiers: chr21:g.46313327T>G (hg19) ; chr21:g.44893412T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44893412T>G , CM000683.2:g.44893412T>G	GRCh38
NC_000021.8:g.46313327T>G , CM000683.1:g.46313327T>G	GRCh37
NC_000021.7:g.45137755T>G	NCBI36
NG_007270.2:g.40427A>C , LRG_76:g.40427A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1288A>C	ENSP00000303242.6:p.Asn430His
ENST00000652462.1:c.1216A>C MANE Select	ENSP00000498780.1:p.Asn406His
ENST00000302347.9:c.1216A>C	ENSP00000303242.5:p.Asn406His
ENST00000355153.8:c.1216A>C	ENSP00000347279.4:p.Asn406His
ENST00000397850.6:c.1216A>C	ENSP00000380948.2:p.Asn406His
ENST00000397852.5:c.1216A>C	ENSP00000380950.1:p.Asn406His
ENST00000397854.7:c.1045A>C	ENSP00000380952.3:p.Asn349His
ENST00000397857.5:c.1216A>C	ENSP00000380955.1:p.Asn406His
ENST00000475170.5:n.616A>C
ENST00000498666.5:n.2785A>C
ENST00000523323.5:c.*1043A>C	ENSP00000427732.1:n.*1043A>C
ENST00000610622.4:c.1045A>C	ENSP00000480700.1:p.Asn349His
NM_000211.4:c.1216A>C	NP_000202.3:p.Asn406His
NM_001127491.2:c.1216A>C	NP_001120963.2:p.Asn406His
NM_001303238.1:c.1009A>C	NP_001290167.1:p.Asn337His
XM_006724001.1:c.1009A>C	XP_006724064.1:p.Asn337His
XM_006724001.2:c.1009A>C	XP_006724064.1:p.Asn337His
NM_000211.5:c.1216A>C MANE Select	NP_000202.3:p.Asn406His
NM_001127491.3:c.1216A>C	NP_001120963.2:p.Asn406His
NM_001303238.2:c.1009A>C	NP_001290167.1:p.Asn337His