Canonical Allele Identifier: CA2062640107
Community Standard Title: NM_057169.5(GIT2):c.1229C= (p.Thr410=)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109953105G= , CM000674.2:g.109953105G= GRCh38
NC_000012.11:g.110390910G= , CM000674.1:g.110390910G= GRCh37
NC_000012.10:g.108875293G= NCBI36
NG_029885.1:g.48285C=

Transcript Alleles

HGVS Amino-acid Change
NM_057169.5:c.1229C= (GIT2) MANE Select NP_476510.1:p.Thr410=
ENST00000355312.8:c.1229C= (GIT2) MANE Select ENSP00000347464.3:p.Thr410=
NM_001135213.1:c.1235C= (GIT2) NP_001128685.1:p.Thr412=
NM_001135213.2:c.1235C= (GIT2) NP_001128685.1:p.Thr412=
NM_001135213.3:c.1235C= (GIT2) NP_001128685.1:p.Thr412=
NM_001135214.1:c.1229C= (GIT2) NP_001128686.1:p.Thr410=
NM_001135214.2:c.1229C= (GIT2) NP_001128686.1:p.Thr410=
NM_001135214.3:c.1229C= (GIT2) NP_001128686.1:p.Thr410=
NM_001330153.1:c.1226C= (GIT2) NP_001317082.1:p.Thr409=
NM_001330153.2:c.1226C= (GIT2) NP_001317082.1:p.Thr409=
NM_001330154.1:c.1229C= (GIT2) NP_001317083.1:p.Thr410=
NM_001330154.2:c.1229C= (GIT2) NP_001317083.1:p.Thr410=
NM_014776.3:c.1229C= (GIT2) NP_055591.2:p.Thr410=
NM_014776.4:c.1229C= (GIT2) NP_055591.2:p.Thr410=
NM_014776.5:c.1229C= (GIT2) NP_055591.2:p.Thr410=
NM_057169.3:c.1229C= (GIT2) NP_476510.1:p.Thr410=
NM_057169.4:c.1229C= (GIT2) NP_476510.1:p.Thr410=
NM_057170.3:c.1229C= (GIT2) NP_476511.1:p.Thr410=
NM_057170.4:c.1229C= (GIT2) NP_476511.1:p.Thr410=
NM_057170.5:c.1229C= (GIT2) NP_476511.1:p.Thr410=
NM_139201.2:c.1229C= (GIT2) NP_631940.2:p.Thr410=
NM_139201.3:c.1229C= (GIT2) NP_631940.2:p.Thr410=
ENST00000320063.10:c.1229C= (GIT2) ENSP00000323833.9:p.Thr410=
ENST00000354574.8:c.1235C= (GIT2) ENSP00000346585.4:p.Thr412=
ENST00000355312.7:c.1229C= (GIT2) ENSP00000347464.3:p.Thr410=
ENST00000361006.9:c.1229C= (GIT2) ENSP00000354282.5:p.Thr410=
ENST00000457474.6:c.1235C= (GIT2) ENSP00000391813.2:p.Thr412=
ENST00000544838.5:c.*276-13G= (TCHP) ENSP00000440838.1:n.*276-13G=
ENST00000547694.2:n.242C= (GIT2)
ENST00000547815.5:c.1229C= (GIT2) ENSP00000450348.1:p.Thr410=
ENST00000549999.1:n.1446C= (GIT2)
ENST00000550186.5:c.1043C= (GIT2) ENSP00000473637.1:p.Thr348=
ENST00000550780.1:n.41+20021G= (TCHP)
ENST00000551209.5:c.1226C= (GIT2) ENSP00000448832.1:p.Thr409=
ENST00000551455.5:n.1378C= (GIT2)
ENST00000553118.5:c.1229C= (GIT2) ENSP00000447465.1:p.Thr410=
XM_005253997.2:c.1226C= (GIT2) XP_005254054.1:p.Thr409=
XM_005253997.4:c.1226C= (GIT2) XP_005254054.1:p.Thr409=
XM_005254000.2:c.1226C= (GIT2) XP_005254057.1:p.Thr409=
XM_006719707.2:c.1229C= (GIT2) XP_006719770.1:p.Thr410=
XM_006719707.4:c.1229C= (GIT2) XP_006719770.1:p.Thr410=
XM_006719708.2:c.1229C= (GIT2) XP_006719771.1:p.Thr410=
XM_006719708.4:c.1229C= (GIT2) XP_006719771.1:p.Thr410=
XM_006719709.2:c.1229C= (GIT2) XP_006719772.1:p.Thr410=
XM_006719709.4:c.1229C= (GIT2) XP_006719772.1:p.Thr410=
XM_006719712.2:c.1229C= (GIT2) XP_006719775.1:p.Thr410=
XM_006719712.4:c.1229C= (GIT2) XP_006719775.1:p.Thr410=
XM_006719713.2:c.1229C= (GIT2) XP_006719776.1:p.Thr410=
XM_006719713.4:c.1229C= (GIT2) XP_006719776.1:p.Thr410=
XM_006719714.2:c.1229C= (GIT2) XP_006719777.1:p.Thr410=
XM_017020258.2:c.1226C= (GIT2) XP_016875747.1:p.Thr409=
XM_017020259.2:c.1229C= (GIT2) XP_016875748.1:p.Thr410=
XM_017020260.2:c.1229C= (GIT2) XP_016875749.1:p.Thr410=
XM_017020261.2:c.1226C= (GIT2) XP_016875750.1:p.Thr409=