Canonical Allele Identifier: CA487267803
Gene: LTBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.75078327G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74611624G>C , CM000676.2:g.74611624G>C GRCh38
NC_000014.8:g.75078327G>C , CM000676.1:g.75078327G>C GRCh37
NC_000014.7:g.74148080G>C NCBI36
NG_021486.1:g.5708C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261978.9:c.321C>G MANE Select ENSP00000261978.4:p.Ser107=
ENST00000261978.8:c.321C>G ENSP00000261978.4:p.Ser107=
ENST00000553939.5:c.321C>G ENSP00000452110.1:p.Ser107=
ENST00000556690.5:c.321C>G ENSP00000451477.1:p.Ser107=
ENST00000557425.1:n.123+422C>G
NM_000428.2:c.321C>G NP_000419.1:p.Ser107=
XM_011536765.1:c.321C>G XP_011535067.1:p.Ser107=
XM_011536767.1:c.11+6960C>G XP_011535069.1:n.11+6960C>G
XM_011536765.2:c.321C>G XP_011535067.1:p.Ser107=
NM_000428.3:c.321C>G MANE Select NP_000419.1:p.Ser107=