Canonical Allele Identifier: CA292951594

Gene: SMARCD2

Linked Data

• dbSNP Id: rs981216393
• gnomAD v4: 17-63832206-C-G
• MyVariant Identifiers: chr17:g.61909566C>G (hg19) ; chr17:g.63832206C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832206C>G , CM000679.2:g.63832206C>G	GRCh38
NC_000017.10:g.61909566C>G , CM000679.1:g.61909566C>G	GRCh37
NC_000017.9:g.59263298C>G	NCBI36
NG_053004.1:g.15786G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2607G>C
ENST00000697953.1:n.3180G>C
ENST00000698013.1:n.3292G>C
ENST00000698014.1:n.3515G>C
ENST00000698015.1:n.2608G>C
ENST00000698016.1:c.*732G>C	ENSP00000513502.1:n.*732G>C
ENST00000698017.1:n.2682G>C
ENST00000698018.1:n.2813G>C
ENST00000698019.1:n.3011G>C
ENST00000698020.1:n.2117G>C
ENST00000698021.1:c.2026G>C
ENST00000698022.1:c.*732G>C	ENSP00000513504.1:n.*732G>C
ENST00000698023.1:n.2711G>C
ENST00000698024.1:n.2573G>C
ENST00000698025.1:n.2733G>C
ENST00000698026.1:n.1624G>C
ENST00000698027.1:c.*949G>C	ENSP00000513505.1:n.*949G>C
ENST00000698028.1:n.2816G>C
ENST00000448276.7:c.*732G>C MANE Select	ENSP00000392617.2:n.*732G>C
ENST00000448276.6:c.*732G>C	ENSP00000392617.2:n.*732G>C
ENST00000613943.4:c.2217G>C	ENSP00000483605.1:n.2217G>C
NM_001098426.1:c.*732G>C	NP_001091896.1:n.*732G>C
XM_005257604.2:c.*732G>C	XP_005257661.2:n.*732G>C
NM_001330439.1:c.*732G>C	NP_001317368.1:n.*732G>C
NM_001330440.1:c.*732G>C	NP_001317369.1:n.*732G>C
NM_001098426.2:c.*732G>C MANE Select	NP_001091896.1:n.*732G>C
NM_001330440.2:c.*732G>C	NP_001317369.1:n.*732G>C