Canonical Allele Identifier: CA487155777
Gene: LTBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.74967701A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74500998A>G , CM000676.2:g.74500998A>G GRCh38
NC_000014.8:g.74967701A>G , CM000676.1:g.74967701A>G GRCh37
NC_000014.7:g.74037454A>G NCBI36
NG_021486.1:g.116334T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.5352T>C MANE Select ENSP00000261978.4:p.Pro1784=
ENST00000261978.8:c.5352T>C ENSP00000261978.4:p.Pro1784=
ENST00000553939.5:c.*131T>C ENSP00000452110.1:n.*131T>C
ENST00000554861.1:n.570T>C
ENST00000556690.5:c.5220T>C ENSP00000451477.1:p.Pro1740=
NM_000428.2:c.5352T>C NP_000419.1:p.Pro1784=
XM_011536765.1:c.4971T>C XP_011535067.1:p.Pro1657=
XM_011536766.1:c.4893T>C XP_011535068.1:p.Pro1631=
XM_011536767.1:c.4869T>C XP_011535069.1:p.Pro1623=
XM_011536765.2:c.4971T>C XP_011535067.1:p.Pro1657=
NM_000428.3:c.5352T>C MANE Select NP_000419.1:p.Pro1784=