Canonical Allele Identifier: CA400601505

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837472-C-A
• MyVariant Identifiers: chr17:g.61914832C>A (hg19) ; chr17:g.63837472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837472C>A , CM000679.2:g.63837472C>A	GRCh38
NC_000017.10:g.61914832C>A , CM000679.1:g.61914832C>A	GRCh37
NC_000017.9:g.59268564C>A	NCBI36
NG_053004.1:g.10520G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.258G>T
ENST00000698015.1:n.4G>T
ENST00000698016.1:c.229G>T	ENSP00000513502.1:p.Ala77Ser
ENST00000698021.1:c.33G>T
ENST00000698022.1:c.187G>T	ENSP00000513504.1:p.Ala63Ser
ENST00000698027.1:c.229G>T	ENSP00000513505.1:p.Ala77Ser
ENST00000448276.7:c.370G>T MANE Select	ENSP00000392617.2:p.Ala124Ser
ENST00000225742.13:c.145G>T	ENSP00000225742.9:p.Ala49Ser
ENST00000323347.14:c.226G>T	ENSP00000318451.10:p.Ala76Ser
ENST00000448276.6:c.370G>T	ENSP00000392617.2:p.Ala124Ser
ENST00000577686.1:n.53-235G>T
ENST00000580054.1:c.154G>T	ENSP00000463793.1:p.Ala52Ser
ENST00000584400.5:c.217-235G>T	ENSP00000464503.1:n.217-235G>T
ENST00000613943.4:c.259G>T	ENSP00000483605.1:p.Ala87Ser
NM_001098426.1:c.370G>T	NP_001091896.1:p.Ala124Ser
XM_005257604.2:c.145G>T	XP_005257661.2:p.Ala49Ser
NM_001330439.1:c.145G>T	NP_001317368.1:p.Ala49Ser
NM_001330440.1:c.226G>T	NP_001317369.1:p.Ala76Ser
NM_001098426.2:c.370G>T MANE Select	NP_001091896.1:p.Ala124Ser
NM_001330440.2:c.226G>T	NP_001317369.1:p.Ala76Ser