Canonical Allele Identifier: CA2147074739
Community Standard Title: NM_000428.3(LTBP2):c.4912G= (p.Val1638=)
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74502911C= , CM000676.2:g.74502911C= GRCh38
NC_000014.8:g.74969614C= , CM000676.1:g.74969614C= GRCh37
NC_000014.7:g.74039367C= NCBI36
NG_021486.1:g.114421G=

Transcript Alleles

HGVS Amino-acid Change
NM_000428.3:c.4912G= MANE Select NP_000419.1:p.Val1638=
ENST00000261978.9:c.4912G= MANE Select ENSP00000261978.4:p.Val1638=
NM_000428.2:c.4912G= NP_000419.1:p.Val1638=
ENST00000261978.8:c.4912G= ENSP00000261978.4:p.Val1638=
ENST00000553939.5:c.4912G= ENSP00000452110.1:p.Val1638=
ENST00000556690.5:c.4780G= ENSP00000451477.1:p.Val1594=
XM_011536765.1:c.4531G= XP_011535067.1:p.Val1511=
XM_011536765.2:c.4531G= XP_011535067.1:p.Val1511=
XM_011536766.1:c.4453G= XP_011535068.1:p.Val1485=
XM_011536767.1:c.4429G= XP_011535069.1:p.Val1477=