Canonical Allele Identifier: CA400601514

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837475-G-T
• MyVariant Identifiers: chr17:g.61914835G>T (hg19) ; chr17:g.63837475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837475G>T , CM000679.2:g.63837475G>T	GRCh38
NC_000017.10:g.61914835G>T , CM000679.1:g.61914835G>T	GRCh37
NC_000017.9:g.59268567G>T	NCBI36
NG_053004.1:g.10517C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.255C>A
ENST00000698015.1:n.1C>A
ENST00000698016.1:c.226C>A	ENSP00000513502.1:p.Gln76Lys
ENST00000698021.1:c.30C>A
ENST00000698022.1:c.184C>A	ENSP00000513504.1:p.Gln62Lys
ENST00000698027.1:c.226C>A	ENSP00000513505.1:p.Gln76Lys
ENST00000448276.7:c.367C>A MANE Select	ENSP00000392617.2:p.Gln123Lys
ENST00000225742.13:c.142C>A	ENSP00000225742.9:p.Gln48Lys
ENST00000323347.14:c.223C>A	ENSP00000318451.10:p.Gln75Lys
ENST00000448276.6:c.367C>A	ENSP00000392617.2:p.Gln123Lys
ENST00000577686.1:n.53-238C>A
ENST00000580054.1:c.151C>A	ENSP00000463793.1:p.Gln51Lys
ENST00000584400.5:c.217-238C>A	ENSP00000464503.1:n.217-238C>A
ENST00000613943.4:c.256C>A	ENSP00000483605.1:p.Gln86Lys
NM_001098426.1:c.367C>A	NP_001091896.1:p.Gln123Lys
XM_005257604.2:c.142C>A	XP_005257661.2:p.Gln48Lys
NM_001330439.1:c.142C>A	NP_001317368.1:p.Gln48Lys
NM_001330440.1:c.223C>A	NP_001317369.1:p.Gln75Lys
NM_001098426.2:c.367C>A MANE Select	NP_001091896.1:p.Gln123Lys
NM_001330440.2:c.223C>A	NP_001317369.1:p.Gln75Lys