Canonical Allele Identifier: CA364410018

Gene: TFAP2B

Linked Data

• MyVariant Identifiers: chr6:g.50786653G>T (hg19) ; chr6:g.50818940G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50818940G>T , CM000668.2:g.50818940G>T	GRCh38
NC_000006.11:g.50786653G>T , CM000668.1:g.50786653G>T	GRCh37
NC_000006.10:g.50894612G>T	NCBI36
NG_008438.1:g.5215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.49G>T MANE Select	ENSP00000377265.2:p.Val17Leu
ENST00000344788.7:c.16G>T	ENSP00000342252.3:p.Val6Leu
ENST00000393655.3:c.49G>T	ENSP00000377265.2:p.Val17Leu
NM_003221.3:c.49G>T	NP_003212.2:p.Val17Leu
XM_006715176.2:c.49G>T	XP_006715239.1:p.Val17Leu
XM_011514834.1:c.49G>T	XP_011513136.1:p.Val17Leu
XM_011514835.1:c.49G>T	XP_011513137.1:p.Val17Leu
XM_011514836.1:c.49G>T	XP_011513138.1:p.Val17Leu
XM_011514837.1:c.49G>T	XP_011513139.1:p.Val17Leu
XM_011514837.2:c.49G>T	XP_011513139.1:p.Val17Leu
XM_017011233.1:c.141G>T	XP_016866722.1:p.Leu47Phe
XM_017011234.1:c.105G>T	XP_016866723.1:p.Leu35Phe
XM_017011235.2:c.49G>T	XP_016866724.1:p.Val17Leu
NM_003221.4:c.49G>T MANE Select	NP_003212.2:p.Val17Leu