Canonical Allele Identifier: CA2619285475

Gene: SMARCC2

Linked Data

• gnomAD v4: 12-56163851-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56163851C>A , CM000674.2:g.56163851C>A	GRCh38
NC_000012.11:g.56557635C>A , CM000674.1:g.56557635C>A	GRCh37
NC_000012.10:g.54843902C>A	NCBI36
NG_047081.1:g.30717G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000550164.6:c.3662-86G>T MANE Select	ENSP00000449396.1:n.3662-86G>T
ENST00000267064.8:c.3569-86G>T	ENSP00000267064.4:n.3569-86G>T
ENST00000347471.8:c.3317-86G>T	ENSP00000302919.4:n.3317-86G>T
ENST00000394023.7:c.3383-86G>T	ENSP00000377591.3:n.3383-86G>T
ENST00000550164.5:c.3662-86G>T	ENSP00000449396.1:n.3662-86G>T
ENST00000552674.5:c.*2980-86G>T	ENSP00000447680.1:n.*2980-86G>T
NM_001130420.1:c.3383-86G>T	NP_001123892.1:n.3383-86G>T
NM_003075.3:c.3569-86G>T	NP_003066.2:n.3569-86G>T
NM_139067.2:c.3317-86G>T	NP_620706.1:n.3317-86G>T
XM_005269101.1:c.3662-86G>T	XP_005269158.1:n.3662-86G>T
XM_005269102.1:c.3659-86G>T	XP_005269159.1:n.3659-86G>T
XM_005269103.1:c.3566-86G>T	XP_005269160.1:n.3566-86G>T
XM_005269104.1:c.3380-86G>T	XP_005269161.1:n.3380-86G>T
XM_011538693.1:c.2909-86G>T	XP_011536995.1:n.2909-86G>T
NM_001130420.2:c.3383-86G>T	NP_001123892.1:n.3383-86G>T
NM_001330288.1:c.3662-86G>T	NP_001317217.1:n.3662-86G>T
NM_003075.4:c.3569-86G>T	NP_003066.2:n.3569-86G>T
NM_139067.3:c.3317-86G>T	NP_620706.1:n.3317-86G>T
XM_005269102.2:c.3659-86G>T	XP_005269159.1:n.3659-86G>T
XM_005269103.2:c.3566-86G>T	XP_005269160.1:n.3566-86G>T
XM_011538693.3:c.2909-86G>T	XP_011536995.1:n.2909-86G>T
XM_017019884.1:c.3314-86G>T	XP_016875373.1:n.3314-86G>T
XM_017019885.1:c.3290-86G>T	XP_016875374.1:n.3290-86G>T
XM_017019886.1:c.3224-86G>T	XP_016875375.1:n.3224-86G>T
XM_017019887.2:c.2816-86G>T	XP_016875376.1:n.2816-86G>T
XR_002957373.1:n.3446-86G>T
XR_002957374.1:n.3167-86G>T
NM_001330288.2:c.3662-86G>T MANE Select	NP_001317217.1:n.3662-86G>T
NM_001130420.3:c.3383-86G>T	NP_001123892.1:n.3383-86G>T
NM_003075.5:c.3569-86G>T	NP_003066.2:n.3569-86G>T
NM_139067.4:c.3317-86G>T	NP_620706.1:n.3317-86G>T