Canonical Allele Identifier: CA63069406

Gene: TMEFF2

Linked Data

• dbSNP Id: rs976159883
• gnomAD v3: 2-192049677-A-G
• gnomAD v4: 2-192049677-A-G
• MyVariant Identifiers: chr2:g.192914403A>G (hg19) ; chr2:g.192049677A>G (hg38)

Genomic Alleles

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

Transcript Alleles

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