Canonical Allele Identifier: CA601189365

Gene: MAML2

Linked Data

• dbSNP Id: rs1435903897
• gnomAD v2: 11-95992164-T-G
• gnomAD v3: 11-96259000-T-G
• gnomAD v4: 11-96259000-T-G
• MyVariant Identifiers: chr11:g.95992164T>G (hg19) ; chr11:g.96259000T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.96259000T>G , CM000673.2:g.96259000T>G	GRCh38
NC_000011.9:g.95992164T>G , CM000673.1:g.95992164T>G	GRCh37
NC_000011.8:g.95631812T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000524717.6:c.513+82383A>C MANE Select	ENSP00000434552.1:n.513+82383A>C
ENST00000524717.5:c.513+82383A>C	ENSP00000434552.1:n.513+82383A>C
NM_032427.3:c.513+82383A>C	NP_115803.1:n.513+82383A>C
XM_011543024.1:c.-172+83908A>C	XP_011541326.1:n.-172+83908A>C
XM_011543025.1:c.513+82383A>C	XP_011541327.1:n.513+82383A>C
XM_011543024.3:c.-172+83908A>C	XP_011541326.1:n.-172+83908A>C
XM_011543025.2:c.513+82383A>C	XP_011541327.1:n.513+82383A>C
NM_032427.4:c.513+82383A>C MANE Select	NP_115803.1:n.513+82383A>C