Canonical Allele Identifier: CA400601750

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837595-G-A
• MyVariant Identifiers: chr17:g.61914955G>A (hg19) ; chr17:g.63837595G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837595G>A , CM000679.2:g.63837595G>A	GRCh38
NC_000017.10:g.61914955G>A , CM000679.1:g.61914955G>A	GRCh37
NC_000017.9:g.59268687G>A	NCBI36
NG_053004.1:g.10397C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.135C>T
ENST00000698016.1:c.106C>T	ENSP00000513502.1:p.Pro36Ser
ENST00000698022.1:c.64C>T	ENSP00000513504.1:p.Pro22Ser
ENST00000698027.1:c.106C>T	ENSP00000513505.1:p.Pro36Ser
ENST00000448276.7:c.247C>T MANE Select	ENSP00000392617.2:p.Pro83Ser
ENST00000225742.13:c.22C>T	ENSP00000225742.9:p.Pro8Ser
ENST00000323347.14:c.103C>T	ENSP00000318451.10:p.Pro35Ser
ENST00000448276.6:c.247C>T	ENSP00000392617.2:p.Pro83Ser
ENST00000577686.1:n.53-358C>T
ENST00000580054.1:c.31C>T	ENSP00000463793.1:p.Pro11Ser
ENST00000584400.5:c.217-358C>T	ENSP00000464503.1:n.217-358C>T
ENST00000613943.4:c.136C>T	ENSP00000483605.1:p.Pro46Ser
NM_001098426.1:c.247C>T	NP_001091896.1:p.Pro83Ser
XM_005257604.2:c.22C>T	XP_005257661.2:p.Pro8Ser
NM_001330439.1:c.22C>T	NP_001317368.1:p.Pro8Ser
NM_001330440.1:c.103C>T	NP_001317369.1:p.Pro35Ser
NM_001098426.2:c.247C>T MANE Select	NP_001091896.1:p.Pro83Ser
NM_001330440.2:c.103C>T	NP_001317369.1:p.Pro35Ser