Canonical Allele Identifier: CA390387930

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.75078319T>G (hg19) ; chr14:g.74611616T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74611616T>G , CM000676.2:g.74611616T>G	GRCh38
NC_000014.8:g.75078319T>G , CM000676.1:g.75078319T>G	GRCh37
NC_000014.7:g.74148072T>G	NCBI36
NG_021486.1:g.5716A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.329A>C MANE Select	ENSP00000261978.4:p.Gln110Pro
ENST00000261978.8:c.329A>C	ENSP00000261978.4:p.Gln110Pro
ENST00000553939.5:c.329A>C	ENSP00000452110.1:p.Gln110Pro
ENST00000556690.5:c.329A>C	ENSP00000451477.1:p.Gln110Pro
ENST00000557425.1:n.123+430A>C
NM_000428.2:c.329A>C	NP_000419.1:p.Gln110Pro
XM_011536765.1:c.329A>C	XP_011535067.1:p.Gln110Pro
XM_011536767.1:c.11+6968A>C	XP_011535069.1:n.11+6968A>C
XM_011536765.2:c.329A>C	XP_011535067.1:p.Gln110Pro
NM_000428.3:c.329A>C MANE Select	NP_000419.1:p.Gln110Pro