Canonical Allele Identifier: CA8706537

Gene: SMARCD2

Linked Data

• ClinVar Variation Id: 1023390
• ClinVar RCV Id: RCV001323420
• dbSNP Id: rs761403199
• ExAC: 17:61914928 G / A
• gnomAD v2: 17-61914928-G-A
• gnomAD v4: 17-63837568-G-A
• MyVariant Identifiers: chr17:g.61914928G>A (hg19) ; chr17:g.63837568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837568G>A , CM000679.2:g.63837568G>A	GRCh38
NC_000017.10:g.61914928G>A , CM000679.1:g.61914928G>A	GRCh37
NC_000017.9:g.59268660G>A	NCBI36
NG_053004.1:g.10424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.162C>T
ENST00000698016.1:c.133C>T	ENSP00000513502.1:p.Pro45Ser
ENST00000698022.1:c.91C>T	ENSP00000513504.1:p.Pro31Ser
ENST00000698027.1:c.133C>T	ENSP00000513505.1:p.Pro45Ser
ENST00000448276.7:c.274C>T MANE Select	ENSP00000392617.2:p.Pro92Ser
ENST00000225742.13:c.49C>T	ENSP00000225742.9:p.Pro17Ser
ENST00000323347.14:c.130C>T	ENSP00000318451.10:p.Pro44Ser
ENST00000448276.6:c.274C>T	ENSP00000392617.2:p.Pro92Ser
ENST00000577686.1:n.53-331C>T
ENST00000580054.1:c.58C>T	ENSP00000463793.1:p.Pro20Ser
ENST00000584400.5:c.217-331C>T	ENSP00000464503.1:n.217-331C>T
ENST00000613943.4:c.163C>T	ENSP00000483605.1:p.Pro55Ser
NM_001098426.1:c.274C>T	NP_001091896.1:p.Pro92Ser
XM_005257604.2:c.49C>T	XP_005257661.2:p.Pro17Ser
NM_001330439.1:c.49C>T	NP_001317368.1:p.Pro17Ser
NM_001330440.1:c.130C>T	NP_001317369.1:p.Pro44Ser
NM_001098426.2:c.274C>T MANE Select	NP_001091896.1:p.Pro92Ser
NM_001330440.2:c.130C>T	NP_001317369.1:p.Pro44Ser