Canonical Allele Identifier: CA10352865
Community Standard Title: NM_002063.4(GLRA2):c.1186C>A (p.Pro396Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.14730312C>A , CM000685.2:g.14730312C>A GRCh38
NC_000023.10:g.14748434C>A , CM000685.1:g.14748434C>A GRCh37
NC_000023.9:g.14658355C>A NCBI36
NG_016459.1:g.206015C>A
NG_016459.2:g.206015C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002063.4:c.1186C>A (GLRA2) MANE Select NP_002054.1:p.Pro396Thr
ENST00000218075.9:c.1186C>A (GLRA2) MANE Select ENSP00000218075.4:p.Pro396Thr
NM_001118885.1:c.1186C>A (GLRA2) NP_001112357.1:p.Pro396Thr
NM_001118885.2:c.1186C>A (GLRA2) NP_001112357.1:p.Pro396Thr
NM_001118886.1:c.1186C>A (GLRA2) NP_001112358.1:p.Pro396Thr
NM_001118886.2:c.1186C>A (GLRA2) NP_001112358.1:p.Pro396Thr
NM_001171942.1:c.919C>A (GLRA2) NP_001165413.1:p.Pro307Thr
NM_001171942.2:c.919C>A (GLRA2) NP_001165413.1:p.Pro307Thr
NM_002063.3:c.1186C>A (GLRA2) NP_002054.1:p.Pro396Thr
ENST00000218075.8:c.1186C>A (GLRA2) ENSP00000218075.4:p.Pro396Thr
ENST00000355020.8:c.1186C>A (GLRA2) ENSP00000347123.4:p.Pro396Thr
ENST00000355020.9:c.1186C>A (GLRA2) ENSP00000347123.4:p.Pro396Thr
ENST00000415367.2:n.1437C>A (GLRA2)
ENST00000443437.6:c.919C>A (GLRA2) ENSP00000387756.2:p.Pro307Thr
ENST00000696351.1:c.*515-19289G>T (FANCB) ENSP00000512572.1:n.*515-19289G>T
ENST00000696352.1:c.*108-19289G>T (FANCB) ENSP00000512573.1:n.*108-19289G>T
XM_006724487.2:c.1138C>A (GLRA2) XP_006724550.1:p.Pro380Thr
XM_006724487.3:c.1138C>A (GLRA2) XP_006724550.1:p.Pro380Thr
XM_011545495.1:c.1138C>A (GLRA2) XP_011543797.1:p.Pro380Thr
XM_011545496.1:c.1138C>A (GLRA2) XP_011543798.1:p.Pro380Thr
XM_011545496.2:c.1138C>A (GLRA2) XP_011543798.1:p.Pro380Thr
XM_017029427.1:c.1186C>A (GLRA2) XP_016884916.1:p.Pro396Thr
XM_017029428.2:c.919C>A (GLRA2) XP_016884917.1:p.Pro307Thr
XM_017029429.2:c.919C>A (GLRA2) XP_016884918.1:p.Pro307Thr
XM_024452365.1:c.1138C>A (GLRA2) XP_024308133.1:p.Pro380Thr
XM_024452366.1:c.919C>A (GLRA2) XP_024308134.1:p.Pro307Thr
XR_001755672.1:n.3359-19289G>T (FANCB)
XR_001755673.1:n.3151-19289G>T (FANCB)
XR_001755674.1:n.3052-19289G>T (FANCB)