Canonical Allele Identifier: CA2578488486
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174724650-C-CAGAG
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724652_174724655dup , CM000667.2:g.174724652_174724655dup GRCh38
NC_000005.9:g.174151655_174151658dup , CM000667.1:g.174151655_174151658dup GRCh37
NC_000005.8:g.174084261_174084264dup NCBI36
NG_008124.1:g.5081_5084dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.-8_-5dup MANE Select ENSP00000239243.5:n.-8_-5dup
ENST00000239243.6:c.-8_-5dup ENSP00000239243.5:n.-8_-5dup
ENST00000507785.2:c.-8_-5dup ENSP00000427425.1:n.-8_-5dup
NM_002449.4:c.-8_-5dup NP_002440.2:n.-8_-5dup
NM_001363626.1:c.-8_-5dup NP_001350555.1:n.-8_-5dup
NM_002449.5:c.-8_-5dup MANE Select NP_002440.2:n.-8_-5dup
NM_001363626.2:c.-8_-5dup NP_001350555.1:n.-8_-5dup
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