Canonical Allele Identifier: CA63069370

Gene: TMEFF2

Linked Data

• dbSNP Id: rs748523389
• gnomAD v2: 2-192914159-C-T
• gnomAD v3: 2-192049433-C-T
• gnomAD v4: 2-192049433-C-T
• MyVariant Identifiers: chr2:g.192914159C>T (hg19) ; chr2:g.192049433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.192049433C>T , CM000664.2:g.192049433C>T	GRCh38
NC_000002.11:g.192914159C>T , CM000664.1:g.192914159C>T	GRCh37
NC_000002.10:g.192622404C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272771.10:c.536+8246G>A MANE Select	ENSP00000272771.5:n.536+8246G>A
ENST00000272771.9:c.536+8246G>A	ENSP00000272771.5:n.536+8246G>A
ENST00000392314.5:c.536+8246G>A	ENSP00000376128.1:n.536+8246G>A
NM_001305134.1:c.536+8246G>A	NP_001292063.1:n.536+8246G>A
NM_016192.2:c.536+8246G>A	NP_057276.2:n.536+8246G>A
NM_016192.3:c.536+8246G>A	NP_057276.2:n.536+8246G>A
XM_005246437.2:c.536+8246G>A	XP_005246494.1:n.536+8246G>A
XM_011510890.1:c.509+8246G>A	XP_011509192.1:n.509+8246G>A
XR_923721.1:n.171+585C>T
XR_923722.1:n.171+585C>T
XM_011510890.3:c.509+8246G>A	XP_011509192.1:n.509+8246G>A
XM_017003739.2:c.509+8246G>A	XP_016859228.1:n.509+8246G>A
XM_017003740.2:c.536+8246G>A	XP_016859229.1:n.536+8246G>A
XR_001739830.1:n.171+585C>T
NM_016192.4:c.536+8246G>A MANE Select	NP_057276.2:n.536+8246G>A
NM_001305134.2:c.536+8246G>A	NP_001292063.1:n.536+8246G>A