Canonical Allele Identifier: CA682193516

Gene: MAML2

Linked Data

• dbSNP Id: rs1446913998
• gnomAD v3: 11-96133546-C-G
• gnomAD v4: 11-96133546-C-G
• MyVariant Identifiers: chr11:g.95866710C>G (hg19) ; chr11:g.96133546C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.96133546C>G , CM000673.2:g.96133546C>G	GRCh38
NC_000011.9:g.95866710C>G , CM000673.1:g.95866710C>G	GRCh37
NC_000011.8:g.95506358C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000524717.6:c.514-40029G>C MANE Select	ENSP00000434552.1:n.514-40029G>C
ENST00000524717.5:c.514-40029G>C	ENSP00000434552.1:n.514-40029G>C
NM_032427.3:c.514-40029G>C	NP_115803.1:n.514-40029G>C
XM_011543023.1:c.73-40029G>C	XP_011541325.1:n.73-40029G>C
XM_011543024.1:c.-171-40029G>C	XP_011541326.1:n.-171-40029G>C
XM_011543025.1:c.514-40029G>C	XP_011541327.1:n.514-40029G>C
XM_011543023.3:c.73-40029G>C	XP_011541325.1:n.73-40029G>C
XM_011543024.3:c.-171-40029G>C	XP_011541326.1:n.-171-40029G>C
XM_011543025.2:c.514-40029G>C	XP_011541327.1:n.514-40029G>C
NM_032427.4:c.514-40029G>C MANE Select	NP_115803.1:n.514-40029G>C