Canonical Allele Identifier: CA292951731

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1032619762
• gnomAD v2: 17-61909710-T-G
• gnomAD v3: 17-63832350-T-G
• gnomAD v4: 17-63832350-T-G
• MyVariant Identifiers: chr17:g.61909710T>G (hg19) ; chr17:g.63832350T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832350T>G , CM000679.2:g.63832350T>G	GRCh38
NC_000017.10:g.61909710T>G , CM000679.1:g.61909710T>G	GRCh37
NC_000017.9:g.59263442T>G	NCBI36
NG_053004.1:g.15642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2463A>C
ENST00000697953.1:n.3036A>C
ENST00000698013.1:n.3148A>C
ENST00000698014.1:n.3371A>C
ENST00000698015.1:n.2464A>C
ENST00000698016.1:c.*588A>C	ENSP00000513502.1:n.*588A>C
ENST00000698017.1:n.2538A>C
ENST00000698018.1:n.2669A>C
ENST00000698019.1:n.2867A>C
ENST00000698020.1:n.1973A>C
ENST00000698021.1:c.1882A>C
ENST00000698022.1:c.*588A>C	ENSP00000513504.1:n.*588A>C
ENST00000698023.1:n.2567A>C
ENST00000698024.1:n.2429A>C
ENST00000698025.1:n.2589A>C
ENST00000698026.1:n.1480A>C
ENST00000698027.1:c.*805A>C	ENSP00000513505.1:n.*805A>C
ENST00000698028.1:n.2672A>C
ENST00000698029.1:n.3401A>C
ENST00000448276.7:c.*588A>C MANE Select	ENSP00000392617.2:n.*588A>C
ENST00000448276.6:c.*588A>C	ENSP00000392617.2:n.*588A>C
ENST00000613943.4:c.2073A>C	ENSP00000483605.1:n.2073A>C
NM_001098426.1:c.*588A>C	NP_001091896.1:n.*588A>C
XM_005257604.2:c.*588A>C	XP_005257661.2:n.*588A>C
NM_001330439.1:c.*588A>C	NP_001317368.1:n.*588A>C
NM_001330440.1:c.*588A>C	NP_001317369.1:n.*588A>C
NM_001098426.2:c.*588A>C MANE Select	NP_001091896.1:n.*588A>C
NM_001330440.2:c.*588A>C	NP_001317369.1:n.*588A>C