Canonical Allele Identifier: CA3633939
Gene: GCM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2045428
ClinVar RCV Id: RCV002918178 RCV003961177
dbSNP Id: rs142706232
ExAC: 6:10874588 A / AGTG
gnomAD v2: 6-10874588-A-AGTG
gnomAD v3: 6-10874355-A-AGTG
gnomAD v4: 6-10874355-A-AGTG
MyVariant Identifiers: chr6:g.10874588_10874589insGTG (hg19) chr6:g.10874355_10874356insGTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10874365_10874367dup , CM000668.2:g.10874365_10874367dup GRCh38
NC_000006.11:g.10874598_10874600dup , CM000668.1:g.10874598_10874600dup GRCh37
NC_000006.10:g.10982584_10982586dup NCBI36
NG_008970.1:g.12508_12510dup

Transcript Alleles

HGVS Amino-acid change
ENST00000379491.5:c.1158_1160dup MANE Select ENSP00000368805.4:p.Thr387_Lys388insThr
ENST00000379491.4:c.1158_1160dup ENSP00000368805.4:p.Thr387_Lys388insThr
ENST00000480294.1:c.101-17148_101-17146dup ENSP00000417929.1:n.101-17148_101-17146dup
NM_004752.3:c.1158_1160dup NP_004743.1:p.Thr387_Lys388insThr
XM_011514991.1:c.1158_1160dup XP_011513293.1:p.Thr387_Lys388insThr
NM_004752.4:c.1158_1160dup MANE Select NP_004743.1:p.Thr387_Lys388insThr
Search 100 bp 5'
Search 100 bp 3'