Canonical Allele Identifier: CA567278038

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1415667501
• gnomAD v2: 6-50786552-G-T
• gnomAD v3: 6-50818839-G-T
• gnomAD v4: 6-50818839-G-T
• MyVariant Identifiers: chr6:g.50786552G>T (hg19) ; chr6:g.50818839G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50818839G>T , CM000668.2:g.50818839G>T	GRCh38
NC_000006.11:g.50786552G>T , CM000668.1:g.50786552G>T	GRCh37
NC_000006.10:g.50894511G>T	NCBI36
NG_008438.1:g.5114G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344788.7:c.-86G>T	ENSP00000342252.3:n.-86G>T
ENST00000393655.3:c.-53G>T	ENSP00000377265.2:n.-53G>T
NM_003221.3:c.-53G>T	NP_003212.2:n.-53G>T
XM_006715176.2:c.-53G>T	XP_006715239.1:n.-53G>T
XM_011514834.1:c.-53G>T	XP_011513136.1:n.-53G>T
XM_011514835.1:c.-53G>T	XP_011513137.1:n.-53G>T
XM_011514836.1:c.-53G>T	XP_011513138.1:n.-53G>T
XM_011514837.1:c.-53G>T	XP_011513139.1:n.-53G>T
XM_011514837.2:c.-53G>T	XP_011513139.1:n.-53G>T
XM_017011233.1:c.40G>T	XP_016866722.1:p.Asp14Tyr
XM_017011234.1:c.4G>T	XP_016866723.1:p.Asp2Tyr
XM_017011235.2:c.-53G>T	XP_016866724.1:n.-53G>T