Canonical Allele Identifier: CA120908843

Gene: GFM2 HEXB

Linked Data

• ClinVar Variation Id: 1219640
• ClinVar RCV Id: RCV001588729
• dbSNP Id: rs576626497
• gnomAD v2: 5-74017770-G-A
• gnomAD v3: 5-74721945-G-A
• gnomAD v4: 5-74721945-G-A
• MyVariant Identifiers: chr5:g.74017770G>A (hg19) ; chr5:g.74721945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721945G>A , CM000667.2:g.74721945G>A	GRCh38
NC_000005.9:g.74017770G>A , CM000667.1:g.74017770G>A	GRCh37
NC_000005.8:g.74053526G>A	NCBI36
NG_009770.1:g.41802G>A
NG_011531.1:g.50273C>T
NG_009770.2:g.86923G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-162C>T (GFM2) MANE Select	ENSP00000296805.3:n.2212-162C>T
ENST00000296805.7:c.2212-162C>T (GFM2)	ENSP00000296805.3:n.2212-162C>T
ENST00000345239.6:c.2071-162C>T (GFM2)	ENSP00000296804.3:n.2071-162C>T
ENST00000503312.5:c.608+509G>A (HEXB)
ENST00000505859.1:c.256-354G>A (HEXB)
ENST00000509430.5:c.2212-162C>T (GFM2)	ENSP00000427004.1:n.2212-162C>T
ENST00000513867.1:n.381-354G>A (HEXB)
ENST00000515125.5:n.615-162C>T (GFM2)
NM_001281302.1:c.2308-162C>T (GFM2)	NP_001268231.1:n.2308-162C>T
NM_032380.4:c.2212-162C>T (GFM2)	NP_115756.2:n.2212-162C>T
NM_170691.2:c.2071-162C>T (GFM2)	NP_733792.1:n.2071-162C>T
NR_104006.1:n.2531-162C>T (GFM2)
XM_006714721.2:c.2077-162C>T (GFM2)	XP_006714784.1:n.2077-162C>T
XM_011543690.1:c.2212-162C>T (GFM2)	XP_011541992.1:n.2212-162C>T
XM_017009986.1:c.2212-162C>T (GFM2)	XP_016865475.1:n.2212-162C>T
XR_002956185.1:n.3498-162C>T (GFM2)
NM_032380.5:c.2212-162C>T (GFM2) MANE Select	NP_115756.2:n.2212-162C>T
NM_001281302.2:c.2308-162C>T (GFM2)	NP_001268231.1:n.2308-162C>T
NM_170691.3:c.2071-162C>T (GFM2)	NP_733792.1:n.2071-162C>T
NR_104006.2:n.2277-162C>T (GFM2)