Canonical Allele Identifier: CA487155772
Gene: LTBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.74967695C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74500992C>G , CM000676.2:g.74500992C>G GRCh38
NC_000014.8:g.74967695C>G , CM000676.1:g.74967695C>G GRCh37
NC_000014.7:g.74037448C>G NCBI36
NG_021486.1:g.116340G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.5358G>C MANE Select ENSP00000261978.4:p.Val1786=
ENST00000261978.8:c.5358G>C ENSP00000261978.4:p.Val1786=
ENST00000553939.5:c.*137G>C ENSP00000452110.1:n.*137G>C
ENST00000554861.1:n.576G>C
ENST00000556690.5:c.5226G>C ENSP00000451477.1:p.Val1742=
NM_000428.2:c.5358G>C NP_000419.1:p.Val1786=
XM_011536765.1:c.4977G>C XP_011535067.1:p.Val1659=
XM_011536766.1:c.4899G>C XP_011535068.1:p.Val1633=
XM_011536767.1:c.4875G>C XP_011535069.1:p.Val1625=
XM_011536765.2:c.4977G>C XP_011535067.1:p.Val1659=
NM_000428.3:c.5358G>C MANE Select NP_000419.1:p.Val1786=