Canonical Allele Identifier: CA390381814

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967602G>C (hg19) ; chr14:g.74500899G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500899G>C , CM000676.2:g.74500899G>C	GRCh38
NC_000014.8:g.74967602G>C , CM000676.1:g.74967602G>C	GRCh37
NC_000014.7:g.74037355G>C	NCBI36
NG_021486.1:g.116433C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.5451C>G MANE Select	ENSP00000261978.4:p.Cys1817Trp
ENST00000261978.8:c.5451C>G	ENSP00000261978.4:p.Cys1817Trp
ENST00000553939.5:c.*230C>G	ENSP00000452110.1:n.*230C>G
ENST00000554861.1:n.669C>G
ENST00000556690.5:c.5319C>G	ENSP00000451477.1:p.Cys1773Trp
NM_000428.2:c.5451C>G	NP_000419.1:p.Cys1817Trp
XM_011536765.1:c.5070C>G	XP_011535067.1:p.Cys1690Trp
XM_011536766.1:c.4992C>G	XP_011535068.1:p.Cys1664Trp
XM_011536767.1:c.4968C>G	XP_011535069.1:p.Cys1656Trp
XM_011536765.2:c.5070C>G	XP_011535067.1:p.Cys1690Trp
NM_000428.3:c.5451C>G MANE Select	NP_000419.1:p.Cys1817Trp