Canonical Allele Identifier: CA5073609
Community Standard Title: NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser)
Gene: TJP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69237907G>A , CM000671.2:g.69237907G>A GRCh38
NC_000009.11:g.71852823G>A , CM000671.1:g.71852823G>A GRCh37
NC_000009.10:g.71042643G>A NCBI36
NG_016342.1:g.121600G>A
NG_016342.2:g.142001G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004817.4:c.2209G>A MANE Select NP_004808.2:p.Gly737Ser
ENST00000377245.9:c.2209G>A MANE Select ENSP00000366453.4:p.Gly737Ser
NM_001170414.2:c.2140G>A NP_001163885.1:p.Gly714Ser
NM_001170415.1:c.2221G>A NP_001163886.1:p.Gly741Ser
NM_001170416.1:c.2302G>A NP_001163887.1:p.Gly768Ser
NM_001170416.2:c.2302G>A NP_001163887.1:p.Gly768Ser
NM_001170630.1:c.2209G>A NP_001164101.1:p.Gly737Ser
NM_001369870.1:c.2134G>A NP_001356799.1:p.Gly712Ser
NM_001369871.1:c.2140G>A NP_001356800.1:p.Gly714Ser
NM_001369872.1:c.2209G>A NP_001356801.1:p.Gly737Ser
NM_001369873.1:c.2209G>A NP_001356802.1:p.Gly737Ser
NM_001369874.1:c.2221G>A NP_001356803.1:p.Gly741Ser
NM_001369875.1:c.2221G>A NP_001356804.1:p.Gly741Ser
NM_004817.3:c.2209G>A NP_004808.2:p.Gly737Ser
NM_201629.3:c.2209G>A NP_963923.1:p.Gly737Ser
ENST00000265384.11:c.2209G>A ENSP00000265384.7:p.Gly737Ser
ENST00000348208.8:c.2209G>A ENSP00000345893.4:p.Gly737Ser
ENST00000348208.9:c.2209G>A ENSP00000345893.4:p.Gly737Ser
ENST00000377245.8:c.2209G>A ENSP00000366453.4:p.Gly737Ser
ENST00000453658.6:c.2140G>A ENSP00000392178.2:p.Gly714Ser
ENST00000535702.5:c.2221G>A ENSP00000442090.1:p.Gly741Ser
ENST00000535702.6:c.2221G>A ENSP00000442090.1:p.Gly741Ser
ENST00000539225.1:c.2302G>A ENSP00000438262.1:p.Gly768Ser
ENST00000539225.2:c.2302G>A ENSP00000438262.1:p.Gly768Ser
ENST00000636247.1:n.2288G>A
ENST00000636438.1:c.2386G>A ENSP00000489860.1:p.Gly796Ser
ENST00000642889.1:c.2596G>A ENSP00000493780.1:p.Gly866Ser
ENST00000643352.1:c.*2397G>A ENSP00000496488.1:n.*2397G>A
ENST00000645088.1:c.*2516G>A ENSP00000495447.1:n.*2516G>A
ENST00000647986.1:c.2140G>A ENSP00000496877.1:p.Gly714Ser
ENST00000648042.1:c.918G>A
ENST00000648087.1:n.2519G>A
ENST00000649114.1:c.2209G>A ENSP00000497328.1:p.Gly737Ser
ENST00000649134.1:c.2221G>A ENSP00000498068.1:p.Gly741Ser
ENST00000649783.1:n.2233G>A
ENST00000649943.1:c.2209G>A ENSP00000497539.1:p.Gly737Ser
ENST00000650084.1:c.2212G>A ENSP00000497861.1:p.Gly738Ser
ENST00000650333.1:c.2140G>A ENSP00000496791.1:p.Gly714Ser
ENST00000650460.1:c.1482G>A
ENST00000650522.1:n.1732G>A
XM_005252314.1:c.2221G>A XP_005252371.1:p.Gly741Ser
XM_005252314.2:c.2221G>A XP_005252371.1:p.Gly741Ser
XM_006717324.2:c.2203G>A XP_006717387.1:p.Gly735Ser
XM_011519204.1:c.2140G>A XP_011517506.1:p.Gly714Ser
XM_011519205.1:c.2140G>A XP_011517507.1:p.Gly714Ser
XM_011519206.1:c.2140G>A XP_011517508.1:p.Gly714Ser
XM_011519206.2:c.2140G>A XP_011517508.1:p.Gly714Ser
XM_011519207.1:c.2140G>A XP_011517509.1:p.Gly714Ser
XM_011519207.2:c.2140G>A XP_011517509.1:p.Gly714Ser
XM_011519208.1:c.2140G>A XP_011517510.1:p.Gly714Ser
XM_011519208.2:c.2140G>A XP_011517510.1:p.Gly714Ser
XM_011519209.1:c.2140G>A XP_011517511.1:p.Gly714Ser
XM_011519209.2:c.2140G>A XP_011517511.1:p.Gly714Ser
XM_017015327.2:c.2209G>A XP_016870816.1:p.Gly737Ser
XM_017015328.1:c.2221G>A XP_016870817.1:p.Gly741Ser