Canonical Allele Identifier: CA16043417

Gene: TFAP2B

Linked Data

• ClinVar Variation Id: 374174
• ClinVar RCV Id: RCV000415141
• dbSNP Id: rs1057518947
• MyVariant Identifiers: chr6:g.50805696C>G (hg19) ; chr6:g.50837983C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50837983C>G , CM000668.2:g.50837983C>G	GRCh38
NC_000006.11:g.50805696C>G , CM000668.1:g.50805696C>G	GRCh37
NC_000006.10:g.50913655C>G	NCBI36
NG_008438.1:g.24258C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393655.4:c.830C>G MANE Select	ENSP00000377265.2:p.Ser277Trp
ENST00000393655.3:c.830C>G	ENSP00000377265.2:p.Ser277Trp
NM_003221.3:c.830C>G	NP_003212.2:p.Ser277Trp
XM_006715176.2:c.830C>G	XP_006715239.1:p.Ser277Trp
XM_006715177.2:c.776C>G	XP_006715240.1:p.Ser259Trp
XM_011514834.1:c.857C>G	XP_011513136.1:p.Ser286Trp
XM_011514835.1:c.857C>G	XP_011513137.1:p.Ser286Trp
XM_011514836.1:c.857C>G	XP_011513138.1:p.Ser286Trp
XM_011514837.1:c.857C>G	XP_011513139.1:p.Ser286Trp
XM_011514837.2:c.857C>G	XP_011513139.1:p.Ser286Trp
XM_017011233.1:c.995C>G	XP_016866722.1:p.Ser332Trp
XM_017011234.1:c.959C>G	XP_016866723.1:p.Ser320Trp
XM_017011235.2:c.371C>G	XP_016866724.1:p.Ser124Trp
NM_003221.4:c.830C>G MANE Select	NP_003212.2:p.Ser277Trp