Canonical Allele Identifier: CA353116767
Community Standard Title: NM_007284.4(TWF2):c.588A>C (p.Lys196Asn)
Gene: TWF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52230891T>G , CM000665.2:g.52230891T>G GRCh38
NC_000003.11:g.52264907T>G , CM000665.1:g.52264907T>G GRCh37
NC_000003.10:g.52239947T>G NCBI36
NG_033933.1:g.273A>C

Transcript Alleles

HGVS Amino-acid Change
NM_007284.4:c.588A>C MANE Select NP_009215.1:p.Lys196Asn
ENST00000305533.10:c.588A>C MANE Select ENSP00000303908.4:p.Lys196Asn
NM_007284.3:c.588A>C NP_009215.1:p.Lys196Asn
ENST00000305533.9:c.588A>C ENSP00000303908.4:p.Lys196Asn
ENST00000472755.2:n.721A>C
ENST00000494383.1:c.169A>C
ENST00000499914.2:c.588A>C ENSP00000426464.1:p.Lys196Asn
ENST00000676552.1:n.1278A>C
ENST00000676800.1:n.718A>C
ENST00000676988.1:c.588A>C ENSP00000503120.1:p.Lys196Asn
ENST00000676989.1:c.*427A>C ENSP00000503679.1:n.*427A>C
ENST00000677058.1:n.849A>C
ENST00000677127.1:n.713A>C
ENST00000678330.1:c.588A>C ENSP00000504436.1:p.Lys196Asn
ENST00000678352.1:n.647A>C
ENST00000678549.1:c.*427A>C ENSP00000504044.1:n.*427A>C
ENST00000678681.1:n.829A>C
ENST00000678700.1:n.721A>C
ENST00000678838.1:c.294A>C ENSP00000504408.1:p.Lys98Asn
ENST00000678882.1:n.640A>C
ENST00000679180.1:n.636A>C
ENST00000679296.1:c.294A>C ENSP00000504576.1:p.Lys98Asn