Canonical Allele Identifier: CA381582485
Community Standard Title: NM_006019.4(TCIRG1):c.1305+2T>C
Gene: TCIRG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68047574T>C , CM000673.2:g.68047574T>C GRCh38
NC_000011.9:g.67815041T>C , CM000673.1:g.67815041T>C GRCh37
NC_000011.8:g.67571617T>C NCBI36
NG_007878.1:g.13559T>C , LRG_115:g.13559T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006019.4:c.1305+2T>C MANE Select NP_006010.2:n.1305+2T>C
ENST00000265686.8:c.1305+2T>C MANE Select ENSP00000265686.3:n.1305+2T>C
NM_001351059.1:c.411+2T>C NP_001337988.1:n.411+2T>C
NM_001351059.2:c.411+2T>C NP_001337988.1:n.411+2T>C
NM_006019.3:c.1305+2T>C NP_006010.2:n.1305+2T>C
NM_006053.3:c.657+2T>C NP_006044.1:n.657+2T>C
NM_006053.4:c.657+2T>C NP_006044.1:n.657+2T>C
ENST00000265686.7:c.1305+2T>C ENSP00000265686.3:n.1305+2T>C
ENST00000525516.1:n.99+2T>C
ENST00000525724.5:n.617+2T>C
ENST00000528981.5:c.457+2T>C
ENST00000529364.1:c.716+2T>C
ENST00000532635.5:c.657+2T>C ENSP00000434407.1:n.657+2T>C
ENST00000533005.5:n.341+2T>C
ENST00000698254.1:c.834+2T>C ENSP00000513629.1:n.834+2T>C
ENST00000698255.1:c.1254+2T>C ENSP00000513630.1:n.1254+2T>C
ENST00000698256.1:c.771+2T>C
ENST00000698257.1:n.723+2T>C
ENST00000698258.1:n.291T>C
ENST00000698259.1:n.129+2T>C
XM_005273709.2:c.1305+2T>C XP_005273766.1:n.1305+2T>C
XM_011544726.1:c.1305+2T>C XP_011543028.1:n.1305+2T>C
XM_011544727.1:c.1305+2T>C XP_011543029.1:n.1305+2T>C
XM_011544728.1:c.1305+2T>C XP_011543030.1:n.1305+2T>C
XM_011544729.1:c.1321+2T>C XP_011543031.1:n.1321+2T>C
XM_024448320.1:c.1321+2T>C XP_024304088.1:n.1321+2T>C
XM_024448321.1:c.1321+2T>C XP_024304089.1:n.1321+2T>C
XM_024448322.1:c.1321+2T>C XP_024304090.1:n.1321+2T>C
XM_024448323.1:c.1321+2T>C XP_024304091.1:n.1321+2T>C
XM_024448324.1:c.1321+2T>C XP_024304092.1:n.1321+2T>C
XR_001747721.2:n.1429+2T>C
XR_001747722.1:n.1442+2T>C
XR_001747723.2:n.1442+2T>C
XR_002957115.1:n.1443+2T>C
XR_949754.1:n.1309+2T>C