Canonical Allele Identifier: CA236401
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74526070C>G , CM000676.2:g.74526070C>G GRCh38
NC_000014.8:g.74992773C>G , CM000676.1:g.74992773C>G GRCh37
NC_000014.7:g.74062526C>G NCBI36
NG_021486.1:g.91262G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261978.9:c.2428+5G>C MANE Select ENSP00000261978.4:n.2428+5G>C
ENST00000261978.8:c.2428+5G>C ENSP00000261978.4:n.2428+5G>C
ENST00000553939.5:c.2428+5G>C ENSP00000452110.1:n.2428+5G>C
ENST00000556690.5:c.2428+5G>C ENSP00000451477.1:n.2428+5G>C
NM_000428.2:c.2428+5G>C NP_000419.1:n.2428+5G>C
XM_011536765.1:c.2047+5G>C XP_011535067.1:n.2047+5G>C
XM_011536766.1:c.1969+5G>C XP_011535068.1:n.1969+5G>C
XM_011536767.1:c.1945+5G>C XP_011535069.1:n.1945+5G>C
XM_011536765.2:c.2047+5G>C XP_011535067.1:n.2047+5G>C
NM_000428.3:c.2428+5G>C MANE Select NP_000419.1:n.2428+5G>C