Canonical Allele Identifier: CA6781633

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109945336G>A , CM000674.2:g.109945336G>A GRCh38
NC_000012.11:g.110383141G>A , CM000674.1:g.110383141G>A GRCh37
NC_000012.10:g.108867524G>A NCBI36
NG_029885.1:g.56054C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355312.8:c.1655C>T (GIT2) MANE Select ENSP00000347464.3:p.Ala552Val
ENST00000354574.8:c.1497+1920C>T (GIT2) ENSP00000346585.4:n.1497+1920C>T
ENST00000355312.7:c.1655C>T (GIT2) ENSP00000347464.3:p.Ala552Val
ENST00000361006.9:c.1641+1920C>T (GIT2) ENSP00000354282.5:n.1641+1920C>T
ENST00000457474.6:c.1497+1920C>T (GIT2) ENSP00000391813.2:n.1497+1920C>T
ENST00000544838.5:c.*276-7782G>A (TCHP) ENSP00000440838.1:n.*276-7782G>A
ENST00000549999.1:n.3200+1920C>T (GIT2)
ENST00000550186.5:c.1455+1920C>T (GIT2) ENSP00000473637.1:n.1455+1920C>T
ENST00000550780.1:n.41+12252G>A (TCHP)
ENST00000551209.5:c.1502C>T (GIT2) ENSP00000448832.1:p.Ala501Val
ENST00000553118.5:c.1347+5876C>T (GIT2) ENSP00000447465.1:n.1347+5876C>T
NM_001135213.1:c.1497+1920C>T (GIT2) NP_001128685.1:n.1497+1920C>T
NM_001135214.1:c.1641+1920C>T (GIT2) NP_001128686.1:n.1641+1920C>T
NM_014776.3:c.1491+1920C>T (GIT2) NP_055591.2:n.1491+1920C>T
NM_057169.3:c.1655C>T (GIT2) NP_476510.1:p.Ala552Val
NM_057170.3:c.1347+5876C>T (GIT2) NP_476511.1:n.1347+5876C>T
XM_005253997.2:c.1652C>T (GIT2) XP_005254054.1:p.Ala551Val
XM_005254000.2:c.1502C>T (GIT2) XP_005254057.1:p.Ala501Val
XM_006719707.2:c.1610C>T (GIT2) XP_006719770.1:p.Ala537Val
XM_006719708.2:c.1596+1920C>T (GIT2) XP_006719771.1:n.1596+1920C>T
XM_006719709.2:c.1505C>T (GIT2) XP_006719772.1:p.Ala502Val
XM_006719712.2:c.1243-6089C>T (GIT2) XP_006719775.1:n.1243-6089C>T
NM_001135213.2:c.1497+1920C>T (GIT2) NP_001128685.1:n.1497+1920C>T
NM_001135214.2:c.1641+1920C>T (GIT2) NP_001128686.1:n.1641+1920C>T
NM_001330153.1:c.1502C>T (GIT2) NP_001317082.1:p.Ala501Val
NM_014776.4:c.1491+1920C>T (GIT2) NP_055591.2:n.1491+1920C>T
NM_057169.4:c.1655C>T (GIT2) NP_476510.1:p.Ala552Val
NM_057170.4:c.1347+5876C>T (GIT2) NP_476511.1:n.1347+5876C>T
XM_005253997.4:c.1652C>T (GIT2) XP_005254054.1:p.Ala551Val
XM_006719707.4:c.1610C>T (GIT2) XP_006719770.1:p.Ala537Val
XM_006719708.4:c.1596+1920C>T (GIT2) XP_006719771.1:n.1596+1920C>T
XM_006719709.4:c.1505C>T (GIT2) XP_006719772.1:p.Ala502Val
XM_006719712.4:c.1243-6089C>T (GIT2) XP_006719775.1:n.1243-6089C>T
XM_017020258.2:c.1593+1920C>T (GIT2) XP_016875747.1:n.1593+1920C>T
XM_017020259.2:c.1655C>T (GIT2) XP_016875748.1:p.Ala552Val
XM_017020260.2:c.1641+1920C>T (GIT2) XP_016875749.1:n.1641+1920C>T
NM_057169.5:c.1655C>T (GIT2) MANE Select NP_476510.1:p.Ala552Val
NM_001135213.3:c.1497+1920C>T (GIT2) NP_001128685.1:n.1497+1920C>T
NM_001135214.3:c.1641+1920C>T (GIT2) NP_001128686.1:n.1641+1920C>T
NM_001330153.2:c.1502C>T (GIT2) NP_001317082.1:p.Ala501Val
NM_014776.5:c.1491+1920C>T (GIT2) NP_055591.2:n.1491+1920C>T
NM_057170.5:c.1347+5876C>T (GIT2) NP_476511.1:n.1347+5876C>T