Canonical Allele Identifier: CA263577373

Gene: LTBP2

Linked Data

• dbSNP Id: rs578168494
• MyVariant Identifiers: chr14:g.74967683A>G (hg19) ; chr14:g.74500980A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74500980A>G , CM000676.2:g.74500980A>G	GRCh38
NC_000014.8:g.74967683A>G , CM000676.1:g.74967683A>G	GRCh37
NC_000014.7:g.74037436A>G	NCBI36
NG_021486.1:g.116352T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261978.9:c.5370T>C MANE Select	ENSP00000261978.4:p.His1790=
ENST00000261978.8:c.5370T>C	ENSP00000261978.4:p.His1790=
ENST00000553939.5:c.*149T>C	ENSP00000452110.1:n.*149T>C
ENST00000554861.1:n.588T>C
ENST00000556690.5:c.5238T>C	ENSP00000451477.1:p.His1746=
NM_000428.2:c.5370T>C	NP_000419.1:p.His1790=
XM_011536765.1:c.4989T>C	XP_011535067.1:p.His1663=
XM_011536766.1:c.4911T>C	XP_011535068.1:p.His1637=
XM_011536767.1:c.4887T>C	XP_011535069.1:p.His1629=
XM_011536765.2:c.4989T>C	XP_011535067.1:p.His1663=
NM_000428.3:c.5370T>C MANE Select	NP_000419.1:p.His1790=