Canonical Allele Identifier: CA390387933

Gene: LTBP2

Linked Data

• gnomAD v4: 14-74611616-T-C
• MyVariant Identifiers: chr14:g.75078319T>C (hg19) ; chr14:g.74611616T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.329A>G MANE Select	ENSP00000261978.4:p.Gln110Arg
ENST00000261978.8:c.329A>G	ENSP00000261978.4:p.Gln110Arg
ENST00000553939.5:c.329A>G	ENSP00000452110.1:p.Gln110Arg
ENST00000556690.5:c.329A>G	ENSP00000451477.1:p.Gln110Arg
ENST00000557425.1:n.123+430A>G
NM_000428.2:c.329A>G	NP_000419.1:p.Gln110Arg
XM_011536765.1:c.329A>G	XP_011535067.1:p.Gln110Arg
XM_011536767.1:c.11+6968A>G	XP_011535069.1:n.11+6968A>G
XM_011536765.2:c.329A>G	XP_011535067.1:p.Gln110Arg
NM_000428.3:c.329A>G MANE Select	NP_000419.1:p.Gln110Arg