Canonical Allele Identifier: CA390384982

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74970181T>A (hg19) ; chr14:g.74503478T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74503478T>A , CM000676.2:g.74503478T>A	GRCh38
NC_000014.8:g.74970181T>A , CM000676.1:g.74970181T>A	GRCh37
NC_000014.7:g.74039934T>A	NCBI36
NG_021486.1:g.113854A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261978.9:c.4711A>T MANE Select	ENSP00000261978.4:p.Ser1571Cys
ENST00000261978.8:c.4711A>T	ENSP00000261978.4:p.Ser1571Cys
ENST00000553939.5:c.4711A>T	ENSP00000452110.1:p.Ser1571Cys
ENST00000556690.5:c.4579A>T	ENSP00000451477.1:p.Ser1527Cys
NM_000428.2:c.4711A>T	NP_000419.1:p.Ser1571Cys
XM_011536765.1:c.4330A>T	XP_011535067.1:p.Ser1444Cys
XM_011536766.1:c.4252A>T	XP_011535068.1:p.Ser1418Cys
XM_011536767.1:c.4228A>T	XP_011535069.1:p.Ser1410Cys
XM_011536765.2:c.4330A>T	XP_011535067.1:p.Ser1444Cys
NM_000428.3:c.4711A>T MANE Select	NP_000419.1:p.Ser1571Cys