Canonical Allele Identifier: CA754383417

Gene: TMEM182

Linked Data

• dbSNP Id: rs1384228186
• gnomAD v3: 2-102816139-T-C
• gnomAD v4: 2-102816139-T-C
• MyVariant Identifiers: chr2:g.103432598T>C (hg19) ; chr2:g.102816139T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102816139T>C , CM000664.2:g.102816139T>C	GRCh38
NC_000002.11:g.103432598T>C , CM000664.1:g.103432598T>C	GRCh37
NC_000002.10:g.102799030T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412401.3:c.*1171T>C MANE Select	ENSP00000394178.2:n.*1171T>C
ENST00000639249.1:c.181+18139T>C	ENSP00000491614.1:n.181+18139T>C
ENST00000640575.2:c.469+18139T>C	ENSP00000492657.2:n.469+18139T>C
ENST00000409173.5:c.*1171T>C	ENSP00000387184.1:n.*1171T>C
ENST00000409528.5:c.*1171T>C	ENSP00000387258.1:n.*1171T>C
ENST00000412401.2:c.*1171T>C	ENSP00000394178.2:n.*1171T>C
ENST00000484094.1:n.1627T>C
ENST00000486293.1:n.325+18139T>C
NM_144632.3:c.*1171T>C	NP_653233.3:n.*1171T>C
XM_006712287.1:c.469+18139T>C	XP_006712350.1:n.469+18139T>C
XM_011510630.1:c.*1171T>C	XP_011508932.1:n.*1171T>C
XM_011510631.1:c.*1171T>C	XP_011508933.1:n.*1171T>C
XR_427070.1:n.654+18139T>C
NM_001321343.1:c.*1171T>C	NP_001308272.1:n.*1171T>C
NM_001321344.1:c.*1171T>C	NP_001308273.1:n.*1171T>C
NM_001321345.1:c.*1171T>C	NP_001308274.1:n.*1171T>C
NM_001321346.1:c.*1171T>C	NP_001308275.1:n.*1171T>C
NM_144632.4:c.*1171T>C	NP_653233.4:n.*1171T>C
XM_017003375.1:c.*1171T>C	XP_016858864.1:n.*1171T>C
XM_017003376.1:c.181+18139T>C	XP_016858865.1:n.181+18139T>C
XR_427070.2:n.654+18139T>C
NM_144632.5:c.*1171T>C MANE Select	NP_653233.5:n.*1171T>C
NM_001321343.2:c.*1171T>C	NP_001308272.2:n.*1171T>C
NM_001321344.2:c.*1171T>C	NP_001308273.2:n.*1171T>C
NM_001321345.2:c.*1171T>C	NP_001308274.2:n.*1171T>C
NM_001321346.2:c.*1171T>C	NP_001308275.2:n.*1171T>C