Canonical Allele Identifier: CA390384706

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74970027A>C (hg19) ; chr14:g.74503324A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503324A>C , CM000676.2:g.74503324A>C	GRCh38
NC_000014.8:g.74970027A>C , CM000676.1:g.74970027A>C	GRCh37
NC_000014.7:g.74039780A>C	NCBI36
NG_021486.1:g.114008T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4783T>G MANE Select	ENSP00000261978.4:p.Cys1595Gly
ENST00000261978.8:c.4783T>G	ENSP00000261978.4:p.Cys1595Gly
ENST00000553939.5:c.4783T>G	ENSP00000452110.1:p.Cys1595Gly
ENST00000556690.5:c.4651T>G	ENSP00000451477.1:p.Cys1551Gly
NM_000428.2:c.4783T>G	NP_000419.1:p.Cys1595Gly
XM_011536765.1:c.4402T>G	XP_011535067.1:p.Cys1468Gly
XM_011536766.1:c.4324T>G	XP_011535068.1:p.Cys1442Gly
XM_011536767.1:c.4300T>G	XP_011535069.1:p.Cys1434Gly
XM_011536765.2:c.4402T>G	XP_011535067.1:p.Cys1468Gly
NM_000428.3:c.4783T>G MANE Select	NP_000419.1:p.Cys1595Gly