Canonical Allele Identifier: CA1040618623

Gene: TMEFF2

Linked Data

• dbSNP Id: rs976159883
• gnomAD v3: 2-192049677-A-C
• gnomAD v4: 2-192049677-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.192049677A>C , CM000664.2:g.192049677A>C	GRCh38
NC_000002.11:g.192914403A>C , CM000664.1:g.192914403A>C	GRCh37
NC_000002.10:g.192622648A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000272771.10:c.536+8002T>G MANE Select	ENSP00000272771.5:n.536+8002T>G
ENST00000272771.9:c.536+8002T>G	ENSP00000272771.5:n.536+8002T>G
ENST00000392314.5:c.536+8002T>G	ENSP00000376128.1:n.536+8002T>G
NM_001305134.1:c.536+8002T>G	NP_001292063.1:n.536+8002T>G
NM_016192.2:c.536+8002T>G	NP_057276.2:n.536+8002T>G
NM_016192.3:c.536+8002T>G	NP_057276.2:n.536+8002T>G
XM_005246437.2:c.536+8002T>G	XP_005246494.1:n.536+8002T>G
XM_011510890.1:c.509+8002T>G	XP_011509192.1:n.509+8002T>G
XR_923721.1:n.171+829A>C
XR_923722.1:n.171+829A>C
XM_011510890.3:c.509+8002T>G	XP_011509192.1:n.509+8002T>G
XM_017003739.2:c.509+8002T>G	XP_016859228.1:n.509+8002T>G
XM_017003740.2:c.536+8002T>G	XP_016859229.1:n.536+8002T>G
XR_001739830.1:n.171+829A>C
NM_016192.4:c.536+8002T>G MANE Select	NP_057276.2:n.536+8002T>G
NM_001305134.2:c.536+8002T>G	NP_001292063.1:n.536+8002T>G