Canonical Allele Identifier: CA2676572802
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174725111-G-GTCTCGGTACCCTCAGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725111_174725112insTCTCGGTACCCTCAGCC , CM000667.2:g.174725111_174725112insTCTCGGTACCCTCAGCC GRCh38
NC_000005.9:g.174152114_174152115insTCTCGGTACCCTCAGCC , CM000667.1:g.174152114_174152115insTCTCGGTACCCTCAGCC GRCh37
NC_000005.8:g.174084720_174084721insTCTCGGTACCCTCAGCC NCBI36
NG_008124.1:g.5540_5541insTCTCGGTACCCTCAGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+73_379+74insTCTCGGTACCCTCAGCC MANE Select ENSP00000239243.5:n.379+73_379+74insTCTCGGTACCCTCAGCC
ENST00000239243.6:c.379+73_379+74insTCTCGGTACCCTCAGCC ENSP00000239243.5:n.379+73_379+74insTCTCGGTACCCTCAGCC
ENST00000507785.2:c.*3+44_*3+45insTCTCGGTACCCTCAGCC ENSP00000427425.1:n.*3+44_*3+45insTCTCGGTACCCTCAGCC
NM_002449.4:c.379+73_379+74insTCTCGGTACCCTCAGCC NP_002440.2:n.379+73_379+74insTCTCGGTACCCTCAGCC
NM_001363626.1:c.*3+44_*3+45insTCTCGGTACCCTCAGCC NP_001350555.1:n.*3+44_*3+45insTCTCGGTACCCTCAGCC
NM_002449.5:c.379+73_379+74insTCTCGGTACCCTCAGCC MANE Select NP_002440.2:n.379+73_379+74insTCTCGGTACCCTCAGCC
NM_001363626.2:c.*3+44_*3+45insTCTCGGTACCCTCAGCC NP_001350555.1:n.*3+44_*3+45insTCTCGGTACCCTCAGCC
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