Canonical Allele Identifier: CA390384394
Community Standard Title: NM_000428.3(LTBP2):c.4855C>G (p.Gln1619Glu)
Gene: LTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74503252G>C , CM000676.2:g.74503252G>C GRCh38
NC_000014.8:g.74969955G>C , CM000676.1:g.74969955G>C GRCh37
NC_000014.7:g.74039708G>C NCBI36
NG_021486.1:g.114080C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000428.3:c.4855C>G MANE Select NP_000419.1:p.Gln1619Glu
ENST00000261978.9:c.4855C>G MANE Select ENSP00000261978.4:p.Gln1619Glu
NM_000428.2:c.4855C>G NP_000419.1:p.Gln1619Glu
ENST00000261978.8:c.4855C>G ENSP00000261978.4:p.Gln1619Glu
ENST00000553939.5:c.4855C>G ENSP00000452110.1:p.Gln1619Glu
ENST00000556690.5:c.4723C>G ENSP00000451477.1:p.Gln1575Glu
XM_011536765.1:c.4474C>G XP_011535067.1:p.Gln1492Glu
XM_011536765.2:c.4474C>G XP_011535067.1:p.Gln1492Glu
XM_011536766.1:c.4396C>G XP_011535068.1:p.Gln1466Glu
XM_011536767.1:c.4372C>G XP_011535069.1:p.Gln1458Glu