Canonical Allele Identifier: CA390382042

Gene: LTBP2

Linked Data

• MyVariant Identifiers: chr14:g.74967679A>G (hg19) ; chr14:g.74500976A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500976A>G , CM000676.2:g.74500976A>G	GRCh38
NC_000014.8:g.74967679A>G , CM000676.1:g.74967679A>G	GRCh37
NC_000014.7:g.74037432A>G	NCBI36
NG_021486.1:g.116356T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5374T>C MANE Select	ENSP00000261978.4:p.Tyr1792His
ENST00000261978.8:c.5374T>C	ENSP00000261978.4:p.Tyr1792His
ENST00000553939.5:c.*153T>C	ENSP00000452110.1:n.*153T>C
ENST00000554861.1:n.592T>C
ENST00000556690.5:c.5242T>C	ENSP00000451477.1:p.Tyr1748His
NM_000428.2:c.5374T>C	NP_000419.1:p.Tyr1792His
XM_011536765.1:c.4993T>C	XP_011535067.1:p.Tyr1665His
XM_011536766.1:c.4915T>C	XP_011535068.1:p.Tyr1639His
XM_011536767.1:c.4891T>C	XP_011535069.1:p.Tyr1631His
XM_011536765.2:c.4993T>C	XP_011535067.1:p.Tyr1665His
NM_000428.3:c.5374T>C MANE Select	NP_000419.1:p.Tyr1792His